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["OMIM IDs","Diagnosis","in DeepGestalt test set","PMID","Case ID","Gene","HGVS","PEDIA rank","N° of features","HPO Features","N° of absent features","Absent HPO Features"]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 2; HPMRS2","n",22683086,37083,"PIGO","NM_032634.3:c.2361dup, NM_032634.3:c.2869C>T",1,8,"Global developmental delay, Smooth philtrum, Epicanthus, Elevated alkaline phosphatase, Downturned corners of mouth, Thick upper lip vermilion, Short chin, Chin with horizontal crease",0]
["602849","Muenke Syndrome; MNKES","n",26740388,204249,"FGFR3","NM_000142.4:c.749C>G",1,5,"Hearing impairment, Global developmental delay, Intellectual disability, Seizures, Right unicoronal synostosis",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","10597794",29999,"PGAP3","NM_033419.3:c.861G>T, NM_033419.3:c.*559C>T",1,5,"Elevated alkaline phosphatase, Intellectual disability, Seizures, Thick upper lip vermilion, Short philtrum",0]
["150250","Larsen Syndrome; LRS","n","16801345",208664,"FLNB","NM_001457.3:c.5500G>A",1,13,"Short stature, Elbow dislocation, Congenital knee dislocation, Congenital hip dislocation, Cleft palate, Broad distal phalanx of finger, Spatulate thumbs, Talipes equinovarus, Vertebral fusion, Tapered humerus, Vertebral arch anomaly, Abnormal bone ossification, Midface retrusion",0]
["150250","Larsen Syndrome; LRS","n","16801345",208654,"FLNB","NM_001457.3:c.1081G>A",1,22,"Midface retrusion, Cleft palate, Hearing impairment, Joint dislocation, Large joint dislocations, Upper extremity joint dislocation, Lower extremity joint dislocation, Bilateral elbow dislocations, Hip dislocation, Knee dislocation, Talipes equinovarus, Abnormality of finger, Broad finger, Vertebral fusion, Abnormality of the vertebral column, Tapered humerus, Abnormal bone ossification, Neurodevelopmental delay, Congenital conductive hearing impairment, Short stature, Broad distal phalanx of finger, Spatulate thumbs",0]
["150250","Larsen Syndrome; LRS","n","16801345",208660,"FLNB","NM_001457.3:c.4775T>A",1,18,"Short stature, Elbow dislocation, Congenital knee dislocation, Congenital hip dislocation, Congenital conductive hearing impairment, Cleft palate, Broad distal phalanx of finger, Bilateral conductive hearing impairment, Abnormality of the vertebral column, Myelopathy, Spatulate thumbs, Talipes equinovarus, Scoliosis, Vertebral fusion, Vertebral arch anomaly, Abnormal bone ossification, Midface retrusion, Severe hearing impairment",0]
["150250","Larsen Syndrome; LRS","n","16801345",208659,"FLNB","NM_001457.3:c.679G>A",1,16,"Short stature, Knee dislocation, Congenital hip dislocation, Cleft palate, Broad distal phalanx of finger, Bilateral elbow dislocations, Abnormality of the thorax, Joint dislocation, Large joint dislocations, Spatulate thumbs, Talipes equinovarus, Scoliosis, Vertebral fusion, Vertebral arch anomaly, Abnormal bone ossification, Midface retrusion",0]
["608393","Microcephaly 6, Primary, Autosomal Recessive; MCPH6","n","16900296",222155,"CENPJ","NM_018451.4:c.3243_3246delTCAG",1,3,"Absent speech, Intellectual disability, severe, Microcephaly",3,"EEG abnormality, Motor delay, Abnormality of brain morphology"]
["154780","Marshall Syndrome; MRSHS","n","17236192",222305,"COL11A1","NM_001854.3:c.3816+1G>A",1,17,"High-frequency hearing impairment, Short stature, Depressed nasal bridge, Enlarged joints, Retinal detachment, Cleft palate, Abnormal vitreous humor morphology, Micrognathia, Anteverted nares, Short nose, Sensorineural hearing impairment, Platyspondyly, High myopia, Retinal perforation, Flat face, Proptosis, Midface retrusion",0]
["154780","Marshall Syndrome; MRSHS","n","17236192",222306,"COL11A1","NM_001854.3:c.3816+1G>A",1,9,"Depressed nasal bridge, Cleft palate, Micrognathia, Myopia, Anteverted nares, Short nose, Pierre-Robin sequence, Proptosis, Midface retrusion",0]
["154780","Marshall Syndrome; MRSHS","n","17236192",222308,"COL11A1","NM_001854.3:c.4033-1G>C",1,14,"Depressed nasal bridge, Cleft palate, Arthralgia, Abnormal vitreous humor morphology, Abnormality of the midface, Micrognathia, Anteverted nares, Short nose, Sensorineural hearing impairment, High myopia, Flat face, Proptosis, Midface retrusion, Mild hearing impairment",0]
["154780","Marshall Syndrome; MRSHS","n","17236192",222310,"COL11A1","NM_001854.3:c.4140+1G>A",1,12,"Genu valgum, Depressed nasal bridge, Cataract, Bilateral sensorineural hearing impairment, Arthralgia, Micrognathia, Myopia, Anteverted nares, Short nose, Flat face, Proptosis, Midface retrusion",0]
["154780","Marshall Syndrome; MRSHS","n","17236192",222311,"COL11A1","NM_001854.3:c.4412G>A",1,14,"Short stature, Depressed nasal bridge, Cleft palate, Micrognathia, Myopia, Anteverted nares, Short nose, Pierre-Robin sequence, Retinal degeneration, Flat face, Proptosis, Midface retrusion, Moderate conductive hearing impairment, Optically empty vitreous",0]
["154780","Marshall Syndrome; MRSHS","n","17236192",222201,"COL11A1","NM_001854.3:c.2760_2777del",1,16,"Short stature, Depressed nasal bridge, Cleft palate, Abnormal vitreous humor morphology, Abnormality of the midface, Intellectual disability, Micrognathia, Anteverted nares, Short nose, Sensorineural hearing impairment, Pierre-Robin sequence, Platyspondyly, Retinal degeneration, Short femur, High myopia, Flat face",0]
["154780","Marshall Syndrome; MRSHS","n","17236192",222302,"COL11A1","NM_001854.3:c.3816+1G>A",1,14,"Depressed nasal bridge, Retinal detachment, Cleft palate, Abnormal vitreous humor morphology, Micrognathia, Myopia, Anteverted nares, Short nose, Sensorineural hearing impairment, Pierre-Robin sequence, High myopia, Flat face, Proptosis, Midface retrusion",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n","1724113",152226,"PIGV","NM_001202554.1:c.1022C>A, NM_001202554.1:c.1154A>C",1,14,"Hypertelorism, Short distal phalanx of finger, Cognitive impairment, Global developmental delay, Elevated alkaline phosphatase, Downturned corners of mouth, Clinodactyly of the 5th finger, Broad nasal tip, Wide nasal bridge, Intellectual disability, Long palpebral fissure, Long philtrum, Small nail, Clinodactyly",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n","1724113",152232,"PIGV","NM_001202554.1:c.1022C>A, NM_001202554.1:c.1154A>C",1,11,"Hypertelorism, Short distal phalanx of finger, Global developmental delay, Elevated alkaline phosphatase, Downturned corners of mouth, Broad palm, Wide nasal bridge, Intellectual disability, Long palpebral fissure, Small nail, Strabismus",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n","17351347",152237,"PIGV","NM_001202554.1:c.766C>A",1,10,"Hypertelorism, Short distal phalanx of finger, Elevated alkaline phosphatase, Anteriorly placed anus, Anal atresia, Intellectual disability, Long palpebral fissure, Muscular hypotonia, Seizures, Small nail",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n","17351347",152245,"PIGV","NM_001202554.1:c.766C>A",1,6,"Shortening of all distal phalanges of the fingers, Global developmental delay, Motor delay, Intellectual disability, severe, Muscular hypotonia, Seizures",0]
["150250","Larsen Syndrome; LRS","n","18322662",207587,"FLNB","NM_001457.3:c.508G>C",1,19,"Hypertelorism, Depressed nasal tip, Depressed nasal bridge, Elbow flexion contracture, Congenital knee dislocation, Congenital bilateral hip dislocation, Cleft palate, Polyhydramnios, Cervical kyphosis, Abnormal foot bone ossification, Abnormality of the knee, Abnormality of the hip joint, Limitation of knee mobility, Maternal diabetes, Talipes equinovalgus, Scoliosis, Widened distal phalanges, Short metacarpal, Spinal dysraphism",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n","20080219",35607,"PIGV","NM_017837.3:c.1022C>A",1,15,"Shortening of all distal phalanges of the fingers, Hypertelorism, Elevated alkaline phosphatase, Downturned corners of mouth, Clinodactyly of the 5th finger, Broad nasal tip, Wide nasal bridge, Aplasia/Hypoplasia of the nails, Aganglionic megacolon, Intellectual disability, Long palpebral fissure, Muscular hypotonia, Seizures, Thin upper lip vermilion, Upslanted palpebral fissure",0]
["269150","Schinzel-Giedion Midface Retraction Syndrome","n","20436468",159039,"SETBP1","NM_015559.2:c.2608G>A",1,7,"Cognitive impairment, Abnormality of the kidney, Low-set ears, Muscular hypotonia, Seizures, Microcephaly, Severe hearing impairment",0]
["612940","Cutis Laxa, Autosomal Recessive, Type IIb; ARCL2B","n","21487760",203987,"PYCR1","NM_006907.2:c.616G>A",1,17,"Hip dysplasia, Global developmental delay, Excessive wrinkled skin, Dermal translucency, Delayed gross motor development, Cutis laxa, Blue sclerae, Atrophic scars, Adipose tissue loss, Joint hypermobility, Low-set ears, Narrow nose, Pes planus, Thin vermilion border, Thin skin, Sunken cheeks, Triangular face",0]
["612940","Cutis Laxa, Autosomal Recessive, Type IIb; ARCL2B","n","21487760",203988,"PYCR1","NM_006907.2:c.89T>A",1,22,"Hyperammonemia, Hip dysplasia, Highly arched eyebrow, Global developmental delay, Excessive wrinkled skin, Dermal translucency, Delayed skeletal maturation, Motor delay, Cutis laxa, Cryptorchidism, Carious teeth, Intellectual disability, mild, Joint laxity, Long fingers, Myopia, Osteoporosis, Pes planus, Prominent superficial blood vessels, Prominent ear helix, Mild global developmental delay, Triangular face, Strabismus",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n","21739589",29241,"PIGV","NM_001202554.1:c.467G>A, NM_001202554.1:c.1022C>A",1,11,"Hypertelorism, Generalized tonic-clonic seizures, Generalized myoclonic seizures, Downturned corners of mouth, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the nails, Aganglionic megacolon, Muscular hypotonia, Sensorineural hearing impairment, Sparse and thin eyebrow, Upslanted palpebral fissure",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n","21739589",183825,"PIGV","NM_001202554.1:c.1022C>A",1,7,"Shortening of all distal phalanges of the fingers, Global developmental delay, Elevated alkaline phosphatase, Broad nasal tip, Atrial septal defect, Anal atresia, Long palpebral fissure",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n","22315194",184226,"PIGV","NM_001202554.1:c.1022C>A, NM_001202554.1:c.1022C>T",1,10,"Hydroureter, Hydronephrosis, Elevated alkaline phosphatase, Downturned corners of mouth, Broad nasal tip, Long palpebral fissure, Muscular hypotonia, Single umbilical artery, Tented upper lip vermilion, Tented philtrum",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n","22315194",184210,"PIGV","NM_001202554.1:c.467G>A, NM_001202554.1:c.494C>A",1,10,"Shortening of all distal phalanges of the fingers, Hydronephrosis, Global developmental delay, Broad nasal tip, Aganglionic megacolon, Long palpebral fissure, Muscular hypotonia, Seizures, Tented upper lip vermilion, Tented philtrum",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 2; HPMRS2","n","22683086",37087,"PIGO","NM_032634.3:c.2869C>T, NM_032634.3:c.3069+5C>T",1,13,"Shortening of all distal phalanges of the fingers, Hypertelorism, Facial asymmetry, Elevated alkaline phosphatase, Downslanted palpebral fissures, Wide nasal bridge, Aplasia/Hypoplasia of the nails, Intellectual disability, Large fleshy ears, Long philtrum, Anteverted nares, Thin upper lip vermilion, Tented upper lip vermilion",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 3; HPMRS3","n","23561846",240670,"PGAP2","NM_001256240.1:c.296A>G",3,4,"Motor delay, Muscle fiber atrophy, Severe muscular hypotonia, Brain atrophy",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 3; HPMRS3","n","23561846",240638,"PGAP2","NM_001256240.1:c.296A>G",1,7,"Cognitive impairment, Elevated alkaline phosphatase, Motor delay, Intellectual disability, Muscular hypotonia, Sleep-wake cycle disturbance, Strabismus",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 3; HPMRS3","n","23561846",240663,"PGAP2","NM_001256240.1:c.296A>G",6,7,"Cognitive impairment, Elevated alkaline phosphatase, Motor delay, Intellectual disability, Muscular hypotonia, Sleep-wake cycle disturbance, Strabismus",0]
["614207","Hyperphosphatasia with Mental Retardation Syndrome 3; HPMRS3","n","23561847",212343,"PGAP2","NM_001256240.1:c.380T>C",1,21,"Hypoplasia of the corpus callosum, Hypoplastic fifth fingernail, Hypertelorism, Generalized tonic-clonic seizures, Elevated alkaline phosphatase, Broad nasal tip, Broad nail, Atrioventricular canal defect, Aganglionic megacolon, Intellectual disability, Long palpebral fissure, Median cleft palate, Myoclonic atonic seizures, Sensorineural hearing impairment, Wide mouth, Scoliosis, Severe muscular hypotonia, Severe global developmental delay, Chronic constipation, Microcephaly, Tented upper lip vermilion",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 3; HPMRS3","n","23561847",240639,"PGAP2","NM_001256240.1:c.46C>T, NM_001256240.1:c.479C>T",1,6,"Generalized tonic-clonic seizures, Febrile seizures, Elevated alkaline phosphatase, Wide nasal bridge, Intellectual disability, Tented upper lip vermilion",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n","24129430",152047,"PIGV","NM_001202554.1:c.1022C>A",1,9,"Short distal phalanx of the 4th finger, Short distal phalanx of the 2nd finger, Shortening of all distal phalanges of the fingers, Global developmental delay, Wide nasal bridge, Aganglionic megacolon, Muscular hypotonia, Seizures, Tented upper lip vermilion",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n","24129430",183830,"PIGV","NM_001202554.1:c.1022C>A",1,4,"Shortening of all distal phalanges of the fingers, Global developmental delay, Elevated alkaline phosphatase, Seizures",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n","24129430",66585,"PIGV","NM_001202554.1:c.1022C>T",1,15,"Shortening of all distal phalanges of the fingers, Hypertelorism, Short distal phalanx of finger, Hydronephrosis, Global developmental delay, Elevated alkaline phosphatase, Congenital megaureter, Broad nasal tip, Wide nasal bridge, Increased body weight, Short nose, Small nail, Short nail, Tented upper lip vermilion, Megacystis",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n","24129430",66588,"PIGV","NM_001202554.1:c.1022C>A, NM_001202554.1:c.176T>G",1,10,"Hypoplastic toenails, Hypoplastic fingernail, Hypertelorism, Short distal phalanx of finger, Global developmental delay, Elevated alkaline phosphatase, Broad nasal tip, Wide nasal bridge, Short nose, Tented upper lip vermilion",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n","24129430",37088,"PIGV","NM_001202554.1:c.1022C>A",1,15,"Shortening of all distal phalanges of the fingers, Global developmental delay, Epicanthus, Elevated alkaline phosphatase, Downturned corners of mouth, Broad nasal tip, Wide nasal bridge, Aplasia/Hypoplasia of the nails, Abnormal renal morphology, Muscular hypotonia, Vesicoureteral reflux, Seizures, Short chin, Tented upper lip vermilion, Chin with horizontal crease",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n","24129430",183857,"PIGV","NM_001202554.1:c.1022C>A",1,11,"Short 5th metacarpal, Shortening of all distal phalanges of the fingers, Hypertelorism, Global developmental delay, Generalized myoclonic seizures, Elevated alkaline phosphatase, Broad nasal tip, Wide nasal bridge, Aplasia/Hypoplasia of the nails, Long palpebral fissure, Tented upper lip vermilion",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","24439110",66656,"PGAP3","NM_033419.3:c.275G>A",1,17,"Hypertelorism, High palate, Epicanthus, Elevated alkaline phosphatase, Downturned corners of mouth, Motor delay, Bruxism, Broad nasal tip, Wide nasal bridge, Absent speech, Intellectual disability, Large fleshy ears, Long palpebral fissure, Long philtrum, Muscular hypotonia, Short nose, Tented upper lip vermilion",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","24439110",28785,"PGAP3","NM_033419.3:c.914A>G, NM_033419.3:c.439dup",1,14,"Hypertelorism, Global developmental delay, Generalized tonic-clonic seizures, Elevated alkaline phosphatase, Motor delay, Wide nasal bridge, Absent speech, Intellectual disability, Long palpebral fissure, Muscular hypotonia, Short nose, Seizures, Strabismus, Tented upper lip vermilion",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n","27120253",151322,"PGAP3","NM_033419.3:c.320C>T, NM_033419.3:c.827C>T",1,11,"Cognitive impairment, Generalized myoclonic seizures, Generalized hypotonia, Elevated tissue non-specific alkaline phosphatase, Cleft palate, Broad-based gait, Atonic seizures, Intellectual disability, Macroglossia, Micrognathia, Midface retrusion",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","27120253",240263,"PGAP3","NM_033419.3:c.845A>G",1,11,"Global developmental delay, Generalized tonic-clonic seizures, Broad nasal tip, Intellectual disability, severe, Joint laxity, Muscular hypotonia, Spastic tetraparesis, Sleep disturbance, Brain atrophy, Short philtrum, Tented upper lip vermilion",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","27120253",240268,"PGAP3","NM_033419.3:c.845A>G",1,7,"Global developmental delay, Broad nasal tip, Intellectual disability, severe, Joint laxity, Muscular hypotonia, Brain atrophy, Short philtrum",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","27120253",29996,"PGAP3","NM_033419.3:c.861G>T, NM_033419.3:c.*559C>T",1,9,"Elevated alkaline phosphatase, Oculomotor apraxia, Ataxia, Intellectual disability, Long palpebral fissure, Seizures, Macrocephaly, Thick upper lip vermilion, Short philtrum",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","27120253",33746,"PGAP3","NM_033419.3:c.558-10G>A, NM_033419.3:c.320C>T",1,13,"Deeply set eye, Elevated alkaline phosphatase, Downturned corners of mouth, Cleft palate, Wide nasal bridge, Attention deficit hyperactivity disorder, Intellectual disability, Obsessive-compulsive behavior, Seizures, Sleep disturbance, Thin upper lip vermilion, Short philtrum, Upslanted palpebral fissure",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","27120253",66662,"PGAP3","NM_033419.3:c.320C>T, NM_033419.3:c.914A>G",1,6,"Deeply set eye, Elevated alkaline phosphatase, Cleft soft palate, Intellectual disability, Intestinal malrotation, Seizures",0]
["612940","Cutis Laxa, Autosomal Recessive, Type IIb; ARCL2B","n","28294978",203983,"PYCR1","NM_006907.2:c.355C>T",1,15,"Global developmental delay, Palmoplantar cutis laxa, Excessive wrinkled skin, Deep palmar crease, Adducted thumb, Abnormality of the palmar creases, Intellectual disability, Joint hypermobility, Lipodystrophy, Long face, Mandibular prognathia, Narrow nose, Pes planus, Prominent superficial blood vessels, Prematurely aged appearance",0]
["612940","Cutis Laxa, Autosomal Recessive, Type IIb; ARCL2B","n","28294978",203986,"PYCR1","NM_006907.2:c.355C>T",1,17,"Global developmental delay, Palmoplantar cutis laxa, Excessive wrinkled skin, Deep palmar crease, Adducted thumb, Abnormality of the palmar creases, Intellectual disability, Intrauterine growth retardation, Joint hypermobility, Lipodystrophy, Long face, Mandibular prognathia, Narrow nose, Pes planus, Prominent superficial blood vessels, Prematurely aged appearance, Triangular face",0]
["612940","Cutis Laxa, Autosomal Recessive, Type IIb; ARCL2B","n","28294978",203981,"PYCR1","NM_006907.2:c.797G>A",1,23,"Hypotension, Broad forehead, Hand clenching, Global developmental delay, Palmoplantar cutis laxa, Excessive wrinkled skin, Deep palmar crease, Blue sclerae, Adducted thumb, Abnormality of the palmar creases, Intellectual disability, Intrauterine growth retardation, Joint dislocation, Joint hypermobility, Long face, Mandibular prognathia, Osteopenia, Narrow nose, Prominent superficial blood vessels, Prematurely aged appearance, Microcephaly, Triangular face, Strabismus",0]
["612940","Cutis Laxa, Autosomal Recessive, Type IIb; ARCL2B","n","28294978, 21487760",203979,"PYCR1","NM_006907.2:c.572G>A",1,26,"Hypotension, Broad forehead, Hand clenching, Global developmental delay, Palmoplantar cutis laxa, Excessive wrinkled skin, Dermal translucency, Deep palmar crease, Congenital hip dislocation, Blue sclerae, Adducted thumb, Abnormality of the palmar creases, Intellectual disability, Intrauterine growth retardation, Joint dislocation, Joint hypermobility, Lipodystrophy, Pectus excavatum, Narrow nose, Persistent open anterior fontanelle, Pes planus, Umbilical hernia, Prominent superficial blood vessels, Prematurely aged appearance, Microcephaly, Triangular face",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","28327575",113989,"PGAP3","NM_033419.3:c.914A>G",1,11,"Generalized neonatal hypotonia, Cognitive impairment, Elevated alkaline phosphatase, Dandy-Walker malformation, Cleft soft palate, Bilateral ptosis, Low-set ears, Pes planus, Wide mouth, Widely spaced teeth, Seizures",0]
["615716","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","28390064",203822,"PGAP3","NM_033419.3:c.402dupC",1,20,"Hypertelorism, Hyperactivity, Highly arched eyebrow, Generalized myoclonic seizures, Prominent nose, Ventriculomegaly, Motor delay, Dandy-Walker malformation, Bruxism, Wide nasal bridge, Abnormality of the palpebral fissures, Abnormality of the corpus callosum, Intellectual disability, profound, Large fleshy ears, Muscular hypotonia, Short nose, Autistic behavior, Plagiocephaly, Autosomal recessive inheritance, Abnormality of lateral ventricle",0]
["615716","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","28390064",203818,"PGAP3","NM_033419.3:c.402dupC",1,18,"Hypertelorism, Hyperactivity, Highly arched eyebrow, Prominent nose, Ventriculomegaly, Cleft palate, Cerebellar vermis hypoplasia, Wide nasal bridge, Abnormality of the palpebral fissures, Abnormality of the optic nerve, Abnormality of the corpus callosum, Intellectual disability, severe, Large fleshy ears, Muscular hypotonia, Short nose, Autistic behavior, Autosomal recessive inheritance, Tented upper lip vermilion",0]
["615716","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","28390064",203820,"PGAP3","NM_033419.3:c.402dupC",1,20,"Hypertelorism, Hyperactivity, Highly arched eyebrow, Global developmental delay, Epicanthus, Prominent nose, Ventriculomegaly, Cleft palate, Wide nasal bridge, Abnormality of the palpebral fissures, Abnormality of the corpus callosum, Intellectual disability, severe, Large fleshy ears, Muscular hypotonia, Short nose, Autistic behavior, Autosomal recessive inheritance, Strabismus, Tented upper lip vermilion, Severe hearing impairment",0]
["615716","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","28390064",203821,"PGAP3","NM_033419.3:c.402dupC",1,21,"Hypertelorism, Hyperactivity, Highly arched eyebrow, Prominent nose, Motor delay, Cryptorchidism, Cleft palate, Bruxism, Wide nasal bridge, Abnormality of the dentition, Abnormality of the palpebral fissures, Inguinal hernia, Large fleshy ears, Muscular hypotonia, Short nose, Autistic behavior, Autosomal recessive inheritance, Anal fissure, Chronic constipation, Strabismus, Tented upper lip vermilion",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","28390064",155537,"PGAP3","NM_033419.3:c.402dup",1,14,"Hypertelorism, Elevated alkaline phosphatase, Cryptorchidism, Cleft palate, Bruxism, Wide nasal bridge, Intellectual disability, profound, Long palpebral fissure, Muscular hypotonia, Short nose, Anal fissure, Chronic constipation, Strabismus, Tented upper lip vermilion",0]
["615716","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","28390064",203824,"PGAP3","NM_033419.3:c.402dupC",1,19,"Hypertelorism, Hypermetropia, Hyperactivity, Highly arched eyebrow, Prominent nose, Cleft palate, Wide nasal bridge, Abnormality of the palpebral fissures, Abnormality of the corpus callosum, Inguinal hernia, Intellectual disability, severe, Large fleshy ears, Laryngomalacia, Muscular hypotonia, Short nose, Autistic behavior, Autosomal recessive inheritance, Strabismus, Tented upper lip vermilion",0]
["615716","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","28390064",203823,"PGAP3","NM_033419.3:c.402dupC",1,21,"Hypertelorism, Hypermetropia, Hyperactivity, Highly arched eyebrow, Generalized tonic-clonic seizures, Prominent nose, Motor delay, Cryptorchidism, Cleft palate, Bruxism, Wide nasal bridge, Abnormality of the palpebral fissures, Abnormality of the corpus callosum, Intellectual disability, profound, Large fleshy ears, Muscular hypotonia, Short nose, Autistic behavior, Autosomal recessive inheritance, Strabismus, Tented upper lip vermilion",0]
["615716","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","28390064",203815,"PGAP3","NM_033419.3:c.402dupC",1,19,"Hypertelorism, Highly arched eyebrow, Hepatosplenomegaly, Global developmental delay, Prominent nose, Cleft palate, Cerebellar vermis hypoplasia, Wide nasal bridge, Abnormality of the cerebral cortex, Abnormal size of the palpebral fissures, Abnormal shape of the palpebral fissure, Intellectual disability, severe, Large fleshy ears, Muscular hypotonia, Short nose, Nystagmus, Autistic behavior, Autosomal recessive inheritance, Tented upper lip vermilion",0]
["615716","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","28390064",203819,"PGAP3","NM_033419.3:c.817_820delGACT",1,15,"Hypertelorism, Highly arched eyebrow, Global developmental delay, Generalized myoclonic seizures, Prominent nose, Clitoral hypoplasia, Wide nasal bridge, Abnormality of the palpebral fissures, Large fleshy ears, Pectus excavatum, Muscular hypotonia, Short nose, Autistic behavior, Tented upper lip vermilion, Abnormality of the labia minora",0]
["615716","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","28390064",203817,"PGAP3","NM_033419.3:c.402dupC",1,22,"Hypertelorism, Hyperactivity, Highly arched eyebrow, Hepatosplenomegaly, Global developmental delay, Generalized tonic-clonic seizures, Prominent nose, Cleft palate, Cerebellar vermis hypoplasia, Atrial septal defect, Abnormality of the corpus callosum, Abnormal size of the palpebral fissures, Abnormal shape of the palpebral fissure, Intellectual disability, profound, Inverted nipples, Large fleshy ears, Muscular hypotonia, Short nose, Autistic behavior, Autosomal recessive inheritance, Protruding tongue, Tented upper lip vermilion",0]
["615716","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","28390064",203816,"PGAP3","NM_033419.3:c.402dupC",1,22,"Hypertelorism, Hyperactivity, Highly arched eyebrow, Global developmental delay, Prominent nose, Cleft palate, Bruxism, Wide nasal bridge, Abnormality of the corpus callosum, Abnormal size of the palpebral fissures, Abnormal shape of the palpebral fissure, Intellectual disability, profound, Large fleshy ears, Muscular hypotonia, Short nose, Patent ductus arteriosus, Autistic behavior, Autosomal recessive inheritance, Pulmonary arterial hypertension, Protruding tongue, Tented upper lip vermilion, Pulmonary venous hypertension",0]
["251200","Microcephaly 1, Primary, Autosomal Recessive; MCPH1","n","28674240",201635,"ASPM","NM_018136.4:c.10013delA",1,9,"Hyperactivity, Self-injurious behavior, Aggressive behavior, Intellectual disability, moderate, Neurological speech impairment, Autosomal recessive inheritance, Congenital microcephaly, Microcephaly, Happy demeanor",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","28794914",169291,"PGAP3","NM_033419.3:c.851A>G",1,9,"Global developmental delay, Cleft palate, Broad nasal tip, Absent speech, Long philtrum, Retrognathia, Seizures, Upslanted palpebral fissure, Wide nasal ridge",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n","28794914",169288,"PGAP3","NM_033419.3:c.851A>G",1,9,"Generalized hypotonia, Cleft palate, Large fleshy ears, Long philtrum, Autistic behavior, Seizures, Severe global developmental delay, Thin upper lip vermilion, Upslanted palpebral fissure",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n","28817240",182510,"PIGV","NM_001202554.1:c.1022C>A, NM_001202554.1:c.1253C>A",2,16,"Short distal phalanx of the 5th finger, Global developmental delay, Abnormality of the genitourinary system, Elevated alkaline phosphatase, Cleft palate, Aganglionic megacolon, Abnormality of the outer ear, Microretrognathia, Muscular hypotonia, Wide mouth, Retrognathia, Seizures, Telecanthus, Tented upper lip vermilion, Anorectal anomaly, Abnormality of cardiovascular system morphology",0]
["154780","Marshall Syndrome; MRSHS","n","9529347",222194,"COL11A1","NM_001854.3:c.3924_3977del",1,21,"Short nose, Depressed nasal bridge, Anteverted nares, Midface retrusion, Cleft palate, Recurrent otitis media, Bifid uvula, Myopia, Cataract, Sensorineural hearing impairment, Short stature, Osteoarthritis, Knee osteoarthritis, Hypotrichosis, Hypohidrosis, Hypoplasia of the maxilla, Clinodactyly, Aplasia/Hypoplasia of the nasal bone, Hypoplastic frontal sinuses, Cerebral calcification, Hypertelorism",0]
["301040","Alpha-Thalassemia/mental Retardation Syndrome, X-Linked; ATRX","n",null,96824,"ATRX","NM_000489.3:c.7205delT",2,3,"Global developmental delay, Leukodystrophy, Microcephaly",0]
["301040","Alpha-Thalassemia/mental Retardation Syndrome, X-Linked; ATRX","n",null,53382,"ATRX","NM_000489.3:c.4558-3T>G",2,15,"Hypertelorism, Glandular hypospadias, Full cheeks, Depressed nasal bridge, Postnatal microcephaly, Absent speech, Intellectual disability, severe, Interphalangeal joint contracture of finger, Muscular hypotonia, Anteverted nares, Short nose, Partial agenesis of the corpus callosum, Prominent metopic ridge, Strabismus, Feeding difficulties",0]
["115150, 615279, 615280","Cardiofaciocutaneous Syndrome","n",null,122241,"KRAS","NM_004985.3:c.108A>G",1,14,"High forehead, Failure to thrive, Delayed eruption of primary teeth, Cafe-au-lait spot, Bilateral ptosis, Pectus carinatum, Posteriorly rotated ears, Trigonocephaly, Pulmonic stenosis, Red hair, Abnormality of hair density, Ptosis, Tented upper lip vermilion, Narrow palpebral fissure",0]
["115150, 615279, 615280","Cardiofaciocutaneous Syndrome","n",null,82004,"BRAF","NM_004333.4:c.770A>G",1,2,"Downslanted palpebral fissures, Low-set ears",0]
["115150, 615279, 615280","Cardiofaciocutaneous Syndrome","n",null,45251,"BRAF","NM_004333.4:c.770A>G",1,20,"High forehead, Short stature, Global developmental delay, Depressed nasal bridge, Flared nostrils, Finger joint hypermobility, Deeply set eye, Curly hair, Alopecia, Long fingers, Long toe, Muscular hypotonia, Pectus carinatum, Melanocytic nevus, Short neck, Sparse eyelashes, Thick vermilion border, Macrocephaly, Sparse and thin eyebrow, Prominent forehead",0]
["115150, 615279, 615280","Cardiofaciocutaneous Syndrome","n",null,81978,"BRAF","NM_004333.4:c.1406G>A",1,7,"Hypertelorism, Global developmental delay, Absent eyelashes, Dry skin, Cryptorchidism, Absent eyebrow, Low-set ears",0]
["115150, 615279, 615280","Cardiofaciocutaneous Syndrome","n",null,82000,"BRAF","NM_004333.4:c.1798G>C",1,3,"Hypertelorism, Long face, Ptosis",0]
["115150, 615279, 615280","Cardiofaciocutaneous Syndrome","n",null,68766,"BRAF","NM_004333.4:c.1796C>G",1,2,"Hypertelorism, Depressed nasal bridge",0]
["115150, 615279, 615280","Cardiofaciocutaneous Syndrome","n",null,81974,"BRAF","NM_004333.4:c.1787G>T",1,7,"Curly hair, Cafe-au-lait spot, Thickened helices, Moderate global developmental delay, Thick hair, Macrocephaly, Hyperkeratosis pilaris",0]
["219150, 614438, 616603","Cutis Laxa, Autosomal Dominant 3; ADCL3","n",null,79565,"ALDH18A1","NM_002860.3:c.413G>T",1,14,"Postnatal growth retardation, Global developmental delay, Hip dislocation, Delayed closure of the anterior fontanelle, Cutis laxa, Cataract, Brisk reflexes, Adducted thumb, Intrauterine growth retardation, Joint hyperflexibility, Osteopenia, Muscular hypotonia, Talipes equinovarus, Microcephaly",3,"Hernia, Wormian bones, Strabismus"]
["612940","Cutis Laxa, Autosomal Recessive, Type IIb; ARCL2B","n",null,79547,"PYCR1","NM_153824.1:c.535G>A",1,13,"Postnatal growth retardation, Hip dislocation, Cutis laxa, Blue sclerae, Adducted thumb, Joint hyperflexibility, Osteopenia, Muscular hypotonia, Protruding ear, Thin skin, Microcephaly, Triangular face, Strabismus",5,"Hernia, Agenesis of corpus callosum, Cataract, Intrauterine growth retardation, Wormian bones"]
["612940","Cutis Laxa, Autosomal Recessive, Type IIb; ARCL2B","n",null,79551,"PYCR1","NM_153824.1:c.11G>T",1,11,"Postnatal growth retardation, Hip dislocation, Cutis laxa, Adducted thumb, Intrauterine growth retardation, Joint hyperflexibility, Osteopenia, Muscular hypotonia, Protruding ear, Microcephaly, Triangular face",5,"Hernia, Delayed closure of the anterior fontanelle, Cataract, Blue sclerae, Strabismus"]
["612940","Cutis Laxa, Autosomal Recessive, Type IIb; ARCL2B","n",null,79549,"PYCR1","NM_153824.1:c.540+1G>A",1,12,"Hernia, Postnatal growth retardation, Hip dislocation, Cutis laxa, Adducted thumb, Joint hyperflexibility, Osteopenia, Muscular hypotonia, Protruding ear, Wormian bones, Microcephaly, Triangular face",3,"Cataract, Blue sclerae, Strabismus"]
["612940","Cutis Laxa, Autosomal Recessive, Type IIb; ARCL2B","n",null,111760,"PYCR1","NM_153824.1:c.540+1G>A",1,12,"Growth delay, Global developmental delay, Hip dislocation, Cutis laxa, Abnormal facial shape, Adducted thumb, Intrauterine growth retardation, Joint laxity, Thin skin, Severe muscular hypotonia, Microcephaly, Triangular face",4,"Hernia, Congenital strabismus, Blue sclerae, Athetosis"]
["612940","Cutis Laxa, Autosomal Recessive, Type IIb; ARCL2B","n",null,111768,"PYCR1","NM_153824.1:c.722C>T",1,10,"Hernia, Global developmental delay, Delayed cranial suture closure, Cutis laxa, Abnormal facial shape, Congenital strabismus, Athetosis, Intrauterine growth retardation, Joint laxity, Severe muscular hypotonia",7,"Growth delay, Hip dislocation, Blue sclerae, Adducted thumb, Thin skin, Microcephaly, Corneal opacity"]
["175700","Greig Cephalopolysyndactyly Syndrome; GCPS","n",null,44885,"GLI3","NM_000168.5:c.4202delG",1,8,"Hypertelorism, High anterior hairline, Broad hallux, Tall stature, Pes planus, Foot polydactyly, Hand polydactyly, Macrocephaly",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n",null,152038,"PIGV","NM_001202554.1:c.452C>T, NM_001202554.1:c.614A>G",1,4,"Global developmental delay, Intellectual disability, severe, Muscular hypotonia, Seizures",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n",null,183416,"PIGV","NM_001202554.1:c.1022C>A, NM_001202554.1:c.439C>T",1,4,"Global developmental delay, Cleft palate, Aganglionic megacolon, Seizures",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n",null,53503,"PIGV","NM_017837.3:c.1022C>T",1,47,"Short middle phalanx of finger, Short distal phalanx of finger, Hip dysplasia, Highly arched eyebrow, Global developmental delay, External genital hypoplasia, Gait ataxia, Facial asymmetry, Externally rotated hips, Deeply set eye, Elevated alkaline phosphatase, EEG abnormality, Echolalia, Downturned corners of mouth, Hip dislocation, Dental crowding, Deep philtrum, Coarse facial features, Broad-based gait, Broad finger, Broad face, Bifid uvula, Arachnoid cyst, Abnormality of the pinna, Increased adipose tissue, Inguinal hernia, Intellectual disability, Abnormal left ventricle morphology, Truncal ataxia, Low anterior hairline, Low posterior hairline, Large for gestational age, Muscular hypotonia, Narrow palate, Pes planus, Wide mouth, Triangular mouth, Small earlobe, Short neck, Sandal gap, Talipes calcaneovalgus, Vertical forehead creases, Macrocephaly, Upslanted palpebral fissure, Synophrys, Uplifted earlobe, Long ear",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n",null,65742,"PIGG","NM_001127178.1:c.928C>T, NM_001127178.1:c.2261+1G>C",7,7,"Hypoplasia of the corpus callosum, Global developmental delay, EEG abnormality, Abnormal facial shape, Joint hypermobility, Muscular hypotonia, Seizures",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n",null,44646,"PIGV","NM_001202554.1:c.1022C>A, NM_001202554.1:c.1405C>T",1,6,"Highly arched eyebrow, Elevated alkaline phosphatase, Downturned corners of mouth, Motor delay, Intellectual disability, Thick upper lip vermilion",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n",null,30002,"PIGV","NM_017837.3:c.1022C>A",1,3,"Shortening of all distal phalanges of the fingers, Elevated alkaline phosphatase, Intellectual disability",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n",null,28786,"PIGV","NM_017837.3:c.494C>A, NM_017837.3:c.1405C>T",1,7,"Hypertelorism, Highly arched eyebrow, Elevated alkaline phosphatase, Intellectual disability, Seizures, Thick upper lip vermilion, Upslanted palpebral fissure",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n",null,163720,"PIGV","NM_001202554.1:c.1022C>A, NM_001202554.1:c.607C>T",1,2,"Intellectual disability, severe, Seizures",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n",null,28787,"PIGV","NM_017837.3:c.1022C>A",1,7,"Global developmental delay, Elevated alkaline phosphatase, Long philtrum, Short nose, Seizures, Thin upper lip vermilion, Upslanted palpebral fissure",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n",null,152034,"PIGV","NM_001202554.1:c.1022C>A",1,4,"Global developmental delay, Elevated alkaline phosphatase, Intellectual disability, severe, Seizures",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n",null,53515,"PIGV","NM_017837.3:c.1022C>T",1,26,"Short finger, Short distal phalanx of hallux, Short middle phalanx of finger, Highly arched eyebrow, High palate, Global developmental delay, EEG abnormality, Deviation of the hallux, Deep philtrum, Cleft palate, Broad palm, Bifid uvula, Aplasia/Hypoplasia of the distal phalanx of the thumb, Nevus, Inguinal hernia, Lower lip pit, Pectus excavatum, Stereotypy, Seizures, Umbilical hernia, Sandal gap, Scoliosis, Macrocephaly, Upslanted palpebral fissure, Synophrys, Clinodactyly of hallux",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n",null,65738,"PIGG","NM_001127178.1:c.2005C>T",13,6,"Growth delay, Absent speech, Autistic behavior, Poor appetite, Seizures, Severe global developmental delay",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n",null,65744,"PIGG","NM_001127178.1:c.928C>T, NM_001127178.1:c.2261+1G>C",8,7,"Hypoplasia of the corpus callosum, Hypertelorism, Joint hypermobility, Muscular hypotonia, Abnormality of the face, Seizures, Profound global developmental delay",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n",null,153691,"PIGV","NM_001202554.1:c.1022C>A",1,5,"Global developmental delay, Intellectual disability, moderate, Muscular hypotonia, Non-midline cleft lip, Seizures",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome","n",null,69898,"PIGV","NM_001202554.1:c.467G>A, NM_001202554.1:c.614A>G",1,11,"Hypoplasia of the corpus callosum, Gingival overgrowth, Gastroesophageal reflux, Elevated alkaline phosphatase, Intellectual disability, Long palpebral fissure, Optic atrophy, Scoliosis, Thick upper lip vermilion, Tented upper lip vermilion, Hip subluxation",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 2; HPMRS2","n",null,128446,"PIGO","NM_032634.3:c.2397A>C",8,2,"Intellectual disability, mild, Obesity",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 2; HPMRS2","n",null,114643,"PIGO","NM_032634.3:c.1306C>T, NM_032634.3:c.713G>A",1,8,"Shortening of all distal phalanges of the fingers, Global developmental delay, Fingernail dysplasia, Elevated alkaline phosphatase, Dystrophic toenail, Aganglionic megacolon, Sensorineural hearing impairment, Microcephaly",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 2; HPMRS2","n",null,28827,"PIGO","NM_032634.3:c.2191delC, NM_032634.3:c.458T>C",1,6,"Full cheeks, Elevated alkaline phosphatase, Intellectual disability, Thick upper lip vermilion, Telecanthus, Upslanted palpebral fissure",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 2; HPMRS2","n",null,240591,"PIGO","NM_032634.3:c.2191delC, NM_032634.3:c.458T>C",2,3,"Involuntary movements, Severe global developmental delay, Epileptic encephalopathy",0]
["614207","Hyperphosphatasia with Mental Retardation Syndrome 3; HPMRS3","n",null,66653,"PGAP2","NM_001256240.1:c.530G>C",3,7,"Delayed speech and language development, Global developmental delay, Elevated alkaline phosphatase, Motor delay, Absence seizures, Neonatal hypotonia, Brain atrophy",0]
["614207","Hyperphosphatasia with Mental Retardation Syndrome 3; HPMRS3","n",null,66641,"PGAP2","NM_014489.3:c.2T>G",1,3,"Elevated alkaline phosphatase, Intellectual disability, Seizures",0]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n",null,29997,"PGAP3","NM_033419.3:c.402dup, NM_033419.3:c.558-10G>A",1,5,"Hypertelorism, Full cheeks, Elevated alkaline phosphatase, Intellectual disability, Upslanted palpebral fissure",1,"Ptosis"]
["239300, 614207, 614749, 615716, 616025","Hyperphosphatasia with Mental Retardation Syndrome 4; HPMRS4","n",null,47359,"PGAP3","NM_033419.3:c.827C>T, NM_033419.3:c.*559C>T",1,6,"Global developmental delay, Elevated alkaline phosphatase, Downturned corners of mouth, Constipation, Broad nail, Short nose",0]
["610253","Kleefstra Syndrome","n",null,65183,"EHMT1","NM_024757.4:c.1647+2T>C",1,6,"Global developmental delay, Coarse facial features, Intellectual disability, Anteverted nares, Schizophrenia, Synophrys",0]
["610253","Kleefstra Syndrome","n",null,163170,"EHMT1","NM_024757.4:c.3442delC",2,9,"Delayed speech and language development, Generalized hypotonia, Delayed gross motor development, Arthritis, Absent speech, Psoriasiform dermatitis, Severe expressive language delay, Central hypotonia, Mild hearing impairment",0]
["150250","Larsen Syndrome; LRS","n",null,44840,"FLNB","NM_001457.3:c.4928C>T",1,8,"Short humerus, Short stature, Depressed nasal ridge, Broad distal phalanx of finger, Bilateral talipes equinovarus, Joint dislocation, Spatulate thumbs, Macrocephaly",0]
["150250","Larsen Syndrome; LRS","n",null,44841,"FLNB","NM_001457.3:c.4928C>T",1,6,"Short humerus, Depressed nasal ridge, Broad hallux, Bilateral talipes equinovarus, Joint dislocation, Spatulate thumbs",0]
["150250","Larsen Syndrome; LRS","n",null,155728,"CHST3","NM_004273.4:c.1257_1259delGAA",102,4,"Limb undergrowth, Microretrognathia, Radial head subluxation, Short lower limbs",0]
["608967","Loeys-Dietz Syndrome 1","n",null,34235,"TGFBR2","NM_001024847.2:c.1587T>C",1,12,"Hypertelorism, High palate, Motor delay, Bilateral talipes equinovarus, Bifid uvula, Arachnodactyly, Aortic root aneurysm, Aortic regurgitation, Pectus excavatum, Patent ductus arteriosus, Tricuspid valve prolapse, Tricuspid regurgitation",0]
["610536","Mandibulofacial Dysostosis, Guion-Almeida Type; MFDGA","n",null,162880,"EFTUD2","NM_001258354.1:c.1384-2A>G",2,10,"Delayed speech and language development, Hearing impairment, Generalized hypotonia, Prominent nose, Specific learning disability, Recurrent otitis media, Protruding ear, Single transverse palmar crease, Central hypotonia, Microcephaly",0]
["154780","Marshall Syndrome; MRSHS","n",null,21147,"COL11A1","NM_001854.3:c.3816+5G>A",6,6,"Hypertelorism, Cutis gyrata of scalp, Autistic behavior, Seizures, High myopia, Thick upper lip vermilion",0]
["300958","Mental Retardation X-Linked 102; MRX102","n",null,52743,"DDX3X","NM_001193417.1:c.529G>T",1,11,"Hypertelorism, Highly arched eyebrow, Global developmental delay, Esotropia, Downslanted palpebral fissures, Macrotia, Long philtrum, Micrognathia, Muscular hypotonia, Slender finger, Triangular face",0]
["300958","Mental Retardation X-Linked 102; MRX102","n",null,46883,"DDX3X","NM_001356.3:c.1600C>G",1,26,"Underdeveloped nasal alae, Short stature, Hearing impairment, Global developmental delay, Downturned corners of mouth, Knee dislocation, Congenital diaphragmatic hernia, Atrial septal defect, Adducted thumb, Abnormal tricuspid valve morphology, Abnormality of the corpus callosum, Intrauterine growth retardation, Kyphoscoliosis, Long fingers, Low-set ears, Muscular hypotonia, Pachygyria, Patent ductus arteriosus, Pes cavus, Seizures, Talipes equinovarus, Microcephaly, Short philtrum, Short chin, Proptosis, Abnormal pelvis bone morphology",0]
["608716","Microcephaly 5, Primary, Autosomal Recessive; MCPH5","n",null,52844,"ASPM","NM_018136.4:c.8200_8201delAA",1,2,"Intellectual disability, Congenital microcephaly",0]
["251200, 604321, 604804, 608393, 608716, 612703, 614673, 614852, 615095, 615414, 616051, 616080, 616402","Microcephaly, Primary Autosomal Recessive","n",null,52829,"ASPM","NM_018136.4:c.2967G>A",1,2,"Intellectual disability, Congenital microcephaly",0]
["251200, 604321, 604804, 608393, 608716, 612703, 614673, 614852, 615095, 615414, 616051, 616080, 616402","Microcephaly, Primary Autosomal Recessive","n",null,52848,"CENPJ","NM_018451.4:c.17delC",2,2,"Intellectual disability, Congenital microcephaly",0]
["251200, 604321, 604804, 608393, 608716, 612703, 614673, 614852, 615095, 615414, 616051, 616080, 616402","Microcephaly, Primary Autosomal Recessive","n",null,52837,"ASPM","NM_018136.4:c.7782_7783delGA",2,2,"Intellectual disability, Congenital microcephaly",0]
["251200, 604321, 604804, 608393, 608716, 612703, 614673, 614852, 615095, 615414, 616051, 616080, 616402","Microcephaly, Primary Autosomal Recessive","n",null,52756,"ASPM","NM_018136.4:c.2938C>T",1,2,"Intellectual disability, Congenital microcephaly",0]
["251200, 604321, 604804, 608393, 608716, 612703, 614673, 614852, 615095, 615414, 616051, 616080, 616402","Microcephaly, Primary Autosomal Recessive","n",null,52823,"ASPM","NM_018136.4:c.2967G>A",1,2,"Intellectual disability, Congenital microcephaly",0]
["251200, 604321, 604804, 608393, 608716, 612703, 614673, 614852, 615095, 615414, 616051, 616080, 616402","Microcephaly, Primary Autosomal Recessive","n",null,52839,"ASPM","NM_018136.4:c.8200_8201delAA",1,2,"Intellectual disability, Congenital microcephaly",0]
["251200, 604321, 604804, 608393, 608716, 612703, 614673, 614852, 615095, 615414, 616051, 616080, 616402","Microcephaly, Primary Autosomal Recessive","n",null,52841,"ASPM","NM_018136.4:c.8200_8201delAA",1,2,"Intellectual disability, Congenital microcephaly",0]
["251200, 604321, 604804, 608393, 608716, 612703, 614673, 614852, 615095, 615414, 616051, 616080, 616402","Microcephaly, Primary Autosomal Recessive","n",null,52847,"ASPM","NM_018136.4:c.5863dupC",1,2,"Intellectual disability, Congenital microcephaly",0]
["251200, 604321, 604804, 608393, 608716, 612703, 614673, 614852, 615095, 615414, 616051, 616080, 616402","Microcephaly, Primary Autosomal Recessive","n",null,52826,"ASPM","NM_018136.4:c.8200_8201delAA",1,2,"Intellectual disability, Congenital microcephaly",0]
["602849","Muenke Syndrome; MNKES","n",null,45135,"FGFR3","NM_000142.4:c.749C>G",1,7,"Hypertelorism, High forehead, Depressed nasal ridge, Downslanted palpebral fissures, Brachydactyly, Dental crowding, Oxycephaly",0]
["602849","Muenke Syndrome; MNKES","n",null,45141,"FGFR3","NM_000142.4:c.749C>G",1,6,"High forehead, Flat forehead, Depressed nasal ridge, Brachycephaly, Large fontanelles, Proptosis",0]
["602849","Muenke Syndrome; MNKES","n",null,45143,"FGFR3","NM_000142.4:c.749C>G",1,5,"Hypertelorism, High forehead, Brachydactyly, Deviation of finger, Clinodactyly",0]
["602849","Muenke Syndrome; MNKES","n",null,45138,"FGFR3","NM_000142.4:c.749C>G",2,6,"Depressed nasal bridge, Facial asymmetry, Downturned corners of mouth, Downslanted palpebral fissures, Bicoronal synostosis, Sparse and thin eyebrow",0]
["602849","Muenke Syndrome; MNKES","n",null,45142,"FGFR3","NM_000142.4:c.749C>G",1,7,"Hypertelorism, High forehead, Flat forehead, Flat occiput, Facial asymmetry, Brachydactyly, Visual loss",0]
["602849","Muenke Syndrome; MNKES","n",null,45134,"FGFR3","NM_000142.4:c.749C>G",1,8,"Depressed nasal ridge, Facial asymmetry, Epicanthus, Brachydactyly, Bicoronal synostosis, Abnormality of the helix, Anteverted nares, Sparse and thin eyebrow",0]
["602849","Muenke Syndrome; MNKES","n",null,45136,"FGFR3","NM_000142.4:c.749C>G",1,8,"High forehead, Facial asymmetry, Downturned corners of mouth, Brachydactyly, Abnormality of the 2nd finger, Oxycephaly, Thin vermilion border, Thin upper lip vermilion",0]
[162200,"Neurofibromatosis, Type I; NF1","n",null,77968,"NF1","NM_001042492.2:c.574C>T",1,5,"Eruptive xanthomas, Downturned corners of mouth, Cafe-au-lait spot, Multiple cafe-au-lait spots, Frontal bossing",1,"Cognitive impairment"]
["261600","Phenylketonuria; PKU","n",null,221325,"PAH","NM_000277.1:c.776C>G, NM_000277.1:c.1208C>T",2,8,"Short stature, Global developmental delay, Generalized seizures, Abnormal aggressive, impulsive or violent behavior, Intellectual disability, Autistic behavior, Poor speech, Ptosis",0]
["312750","Rett Syndrome; RTT","n",null,33237,"MECP2","NM_004992.3:c.808C>T",1,9,"EEG abnormality, Motor delay, Autism, Intellectual disability, profound, Loss of ability to walk, Loss of speech, Progressive microcephaly, Motor deterioration, Seizures",2,"Neonatal hypotonia, Pachygyria"]
["312750","Rett Syndrome; RTT","n",null,163167,"MECP2","NM_001110792.1:c.952C>T",1,9,"Inappropriate laughter, Delayed speech and language development, Cognitive impairment, Developmental regression, Autism, Atonic seizures, Autistic behavior, Seizures, Stereotypical hand wringing",0]
["312750","Rett Syndrome; RTT","n",null,51702,"MECP2","NM_004992.3:c.473C>T",1,28,"Hyperventilation, Horizontal eyebrow, Abnormality of the skin, Full cheeks, Facial grimacing, Deeply set eye, EEG abnormality, Dry skin, Developmental regression, Bruxism, Apnea, Abnormality of the fingertips, Abnormality of eye movement, Loss of speech, Short nose, Stereotypy, Autistic behavior, Pes planus, Sandal gap, Psychomotor deterioration, Speech apraxia, Self-biting, Stereotypical hand wringing, Chronic constipation, Thin upper lip vermilion, Prominent forehead, EEG with centrotemporal focal spike waves, Inappropriate crying",0]
["180700, 268310, 616331","Robinow Syndrome","n",null,146039,"DVL3","NM_004423.3:c.1715-2A>C",3,6,"Cone-shaped epiphysis, Wide nasal bridge, Abnormality of the dentition, Long palpebral fissure, Finger clinodactyly, Abnormal tongue morphology",0]
["184840, 604841, 609508, 614284","Stickler Syndrome","n",null,156912,"COL11A2","NM_080680.2:c.4465G>A",7,4,"Glossoptosis, Cleft palate, Median cleft lip and palate, Microretrognathia",0]
["184840, 604841, 609508, 614284","Stickler Syndrome","n",null,41788,"COL2A1","NM_001844.4:c.3714C>A",1,9,"High palate, Cataract, Bifid uvula, Joint hypermobility, Long foot, Large hands, Retrognathia, High myopia, Midface retrusion",0]
["184840, 604841, 609508, 614284","Stickler Syndrome","n",null,44942,"COL2A1","NM_033150.2:c.922C>T",1,16,"Nasal speech, Finger joint hypermobility, Dolichocephaly, Broad nasal tip, Broad uvula, Bifid uvula, Slender build, Joint hypermobility, Long fingers, Long toe, Micrognathia, Microretrognathia, Retrognathia, Scoliosis, Reduced subcutaneous adipose tissue, High myopia",0]
[null,"Stickler Syndrome, Type 1; STL1","n",null,42112,"COL2A1","NM_001844.4:c.3714C>A",1,2,"Hearing impairment, Cataract",0]
["605130","Wiedemann-Steiner syndrome; WDSTS","n",null,34958,"KMT2A","NM_001197104.1:c.5621dupG",2,8,"Global developmental delay, Generalized hypotonia, Generalized hirsutism, Cervical C2/C3 vertebral fusion, Broad eyebrow, Medial flaring of the eyebrow, Mild short stature, Telecanthus",0]
["605130","Wiedemann-Steiner syndrome; WDSTS","n",null,40910,"KMT2A","NM_001197104.1:c.10376delA",1,15,"Delayed speech and language development, Hypertrichosis, Highly arched eyebrow, Cognitive impairment, Epicanthus, Broad eyebrow, Blepharophimosis, Attached earlobe, Acne, Abnormality of the pinna, Abnormal aggressive, impulsive or violent behavior, Lymphedema, Telecanthus, Ptosis, Synophrys",0]
["103470, 148820, 193500, 193510, 277580, 608890, 611584, 613265, 613266","Waardenburg Syndrome","y",9279758,124164,"MITF","NM_000248.3:c.635G>A",1,3,"Heterochromia iridis, Hearing impairment, Downslanted palpebral fissures",0]
["101400","Saethre-Chotzen Syndrome; SCS","y",10094188,252081,"TWIST1","NM_000474.3:c.353_360delGCCAGCGC",1,8,"Facial asymmetry, Broad hallux, Abnormality of the ear, Microtia, Prominent crus of helix, Round ear, Ptosis, Cutaneous syndactyly",0]
["103470, 148820, 193500, 193510, 277580, 608890, 611584, 613265, 613266","Waardenburg Syndrome, Type 1; WS1","y",12949970,126787,"PAX3","NM_181457.3:c.268T>C",1,3,"Underdeveloped nasal alae, Prominent nasal bridge, Telecanthus",1,"Hearing impairment"]
["103470, 148820, 193500, 193510, 277580, 608890, 611584, 613265, 613266","Waardenburg Syndrome, Type 1; WS1","y",12949970,126766,"PAX3","NM_181457.3:c.268T>C",1,6,"Underdeveloped nasal alae, Prominent nasal bridge, Abnormality of hair pigmentation, White forelock, Telecanthus, Synophrys",0]
["122470, 300590, 300882, 610759, 614701","Cornelia De Lange Syndrome","y",15591270,129103,"NIPBL","NM_133433.3:c.6274C>G",1,19,"Short foot, Hyperactivity, Hirsutism, Highly arched eyebrow, Postnatal growth retardation, Cutis marmorata, Absent speech, Intellectual disability, Intrauterine growth retardation, Limited elbow movement, Long philtrum, Anteverted nares, Short nose, Single transverse palmar crease, Syndactyly, Short palm, Thin upper lip vermilion, Microcephaly, Synophrys",0]
["122470, 300590, 300882, 610759, 614701","Cornelia De Lange Syndrome","y",15591270,129101,"NIPBL","NM_133433.3:c.6707A>T",1,18,"Delayed speech and language development, Short foot, Highly arched eyebrow, Postnatal growth retardation, Gastroesophageal reflux, Cutis marmorata, Atrial septal defect, Intellectual disability, Intrauterine growth retardation, Long philtrum, Anteverted nares, Short nose, Single transverse palmar crease, Short palm, Thin upper lip vermilion, Microcephaly, Synophrys, Feeding difficulties",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",15723289,131112,"PTPN11","NM_002834.3:c.417G>C",1,10,"Hydrocephalus, Short stature, Global developmental delay, Glioma, Few cafe-au-lait spots, Feeding difficulties in infancy, Nevus, Low-set ears, Pulmonic stenosis, Triangular face",0]
["304120, 311300","Otopalatodigital Syndrome","y",16538226,245426,"FLNA","NM_001110556.1:c.620C>T",1,3,"Hypertelorism, Downslanted palpebral fissures, Prominent supraorbital ridges",0]
["118450, 610205","Alagille Syndrome","y",16869209,224396,"JAG1","NM_000214.2:c.1126delG",1,4,"Deeply set eye, Posterior embryotoxon, Peripheral pulmonary artery stenosis, Prominent forehead",2,"Growth abnormality, Decreased liver function"]
["611553","Noonan Syndrome 5; NS5","y",17603483,131482,"RAF1","NM_002880.3:c.1472C>G",1,15,"Hypertelorism, Short stature, Depressed nasal bridge, Epicanthus, Downslanted palpebral fissures, Curly hair, Atrial septal defect, Abnormality of the sternum, Nevus, Intellectual disability, mild, Large earlobe, Webbed neck, Short neck, Pulmonic stenosis, Ptosis",0]
["611553","Noonan Syndrome 5; NS5","y",17603483,131481,"RAF1","NM_002880.3:c.1834T>A",1,21,"Hypertrophic cardiomyopathy, Hypertelorism, Hypermetropia, Hydrocephalus, Short stature, Depressed nasal bridge, Facial hemangioma, Epicanthus, Dry skin, Dolichocephaly, Aplasia/Hypoplasia of the nails, Intellectual disability, Low-set ears, Large for gestational age, Mandibular prognathia, Large earlobe, Wide mouth, Macrocephaly, Ptosis, Sparse and thin eyebrow, Prominent forehead",0]
["611553","Noonan Syndrome 5; NS5","y",17603483,131479,"RAF1","NM_002880.3:c.770C>T",1,16,"Hypertrophic cardiomyopathy, Hypertelorism, Short stature, Depressed nasal bridge, Epicanthus, Dry skin, Downslanted palpebral fissures, Curly hair, Abnormality of the sternum, Nevus, Low-set ears, Mandibular prognathia, Patent foramen ovale, Macrocephaly, Ptosis, Prominent forehead",0]
["611553","Noonan Syndrome 5; NS5","y",17603483,131485,"RAF1","NM_002880.3:c.781C>T",1,11,"Hypertrophic cardiomyopathy, Short stature, Downslanted palpebral fissures, Dolichocephaly, Curly hair, Abnormality of the sternum, Nevus, Low-set ears, Mandibular prognathia, Large earlobe, Prominent forehead",0]
["611553","Noonan Syndrome 5; NS5","y",17603483,131478,"RAF1","NM_002880.3:c.770C>T",1,26,"Hypertrophic cardiomyopathy, Hypertelorism, Short stature, Few cafe-au-lait spots, Epicanthus, Dry skin, Downslanted palpebral fissures, Dolichocephaly, Cryptorchidism, Polyhydramnios, Wide nasal bridge, Abnormality of the sternum, Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Nevus, Intellectual disability, borderline, Laryngomalacia, Low-set, posteriorly rotated ears, Large for gestational age, Mandibular prognathia, Large earlobe, Webbed neck, Short neck, Macrocephaly, Ptosis, Prominent forehead",0]
["611553","Noonan Syndrome 5; NS5","y",17603483,131480,"RAF1","NM_002880.3:c.776C>T",1,20,"Hypoplasia of the corpus callosum, Hypertrophic cardiomyopathy, Hypertelorism, Short stature, Depressed nasal bridge, Epicanthus, Downslanted palpebral fissures, Dolichocephaly, Cryptorchidism, Atrial septal defect, Low-set ears, Mandibular prognathia, Large earlobe, Wide mouth, Webbed neck, Short neck, Thick vermilion border, Macrocephaly, Ptosis, Prominent forehead",0]
["611553","Noonan Syndrome 5; NS5","y",17603483,131483,"RAF1","NM_002880.3:c.779C>G",2,24,"Hypertrophic cardiomyopathy, Hypertelorism, Short stature, Depressed nasal bridge, Dysplastic pulmonary valve, Downslanted palpebral fissures, Cubitus valgus, Polyhydramnios, Abnormal atrioventricular valve morphology, Abnormality of the sternum, Abnormal mitral valve morphology, Abnormality of the kidney, Intellectual disability, Laryngomalacia, Low-set ears, Mandibular prognathia, Large earlobe, Wide mouth, Webbed neck, Short neck, Tetralogy of Fallot, Macrocephaly, Ptosis, Prominent forehead",0]
["611553","Noonan Syndrome 5; NS5","y",17603483,131477,"RAF1","NM_002880.3:c.768G>T",1,19,"Hypertrophic cardiomyopathy, Hypertelorism, Short stature, Fine hair, Downslanted palpebral fissures, Dolichocephaly, Wide nasal bridge, Accessory spleen, Abnormality of the sternum, Nevus, Laryngomalacia, Low-set, posteriorly rotated ears, Mandibular prognathia, Wide mouth, Webbed neck, Short neck, Macrocephaly, Ptosis, Prominent forehead",0]
["611553","Noonan Syndrome 5; NS5","y",17603483,131484,"RAF1","NM_002880.3:c.781C>T",1,17,"Hypertrophic cardiomyopathy, Hypertelorism, Short stature, Dry skin, Downslanted palpebral fissures, Dolichocephaly, Cryptorchidism, Abnormal atrioventricular valve morphology, Abnormality of the sternum, Low-set ears, Mandibular prognathia, Large earlobe, Webbed neck, Short neck, Macrocephaly, Ptosis, Prominent forehead",0]
["214800","Charge Syndrome","y",17661815,113010,"CHD7","NM_017780.3:c.2501C>T",1,25,"Delayed speech and language development, Prominent nasal bridge, Gait imbalance, Esophageal atresia, Posterior embryotoxon, Conductive hearing impairment, Cleft palate, Polyhydramnios, Bronchomalacia, Bilateral cleft lip, Abnormal vertebral morphology, Abnormality of the pinna, Abnormal aortic morphology, Long face, Myopia, Narrow mouth, Recurrent otitis media, Ventricular septal defect, Postural instability, Tracheoesophageal fistula, Spina bifida occulta, Aplasia of the semicircular canal, Hypoplasia of the semicircular canal, Strabismus, Abnormal internal carotid artery morphology",0]
["113620","Branchiooculofacial Syndrome; BOFS","y",18423521,240777,"TFAP2A","NM_003220.2:c.785G>A",1,15,"Hearing impairment, Growth delay, Depressivity, Coloboma, Bilateral cleft palate, Abnormality of the dentition, Abnormality of the nail, Intrauterine growth retardation, Iris coloboma, Medulloblastoma, Microphthalmia, Multicystic kidney dysplasia, Preauricular pit, Retinal coloboma, Sparse hair",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",18678287,130971,"PTPN11","NM_002834.3:c.923A>G",1,3,"Short stature, Abnormal heart morphology, Pulmonic stenosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",18678287,131022,"PTPN11","NM_002834.3:c.1508G>A",1,4,"Short stature, Abnormal heart morphology, Low-set, posteriorly rotated ears, Pulmonic stenosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",18678287,131007,"PTPN11","NM_002834.3:c.1391G>C",1,5,"Short stature, Downslanted palpebral fissures, Low-set, posteriorly rotated ears, Pulmonic stenosis, Abnormality of cardiovascular system morphology",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",18678287,131037,"PTPN11","NM_002834.3:c.1510A>T",1,5,"Short stature, Downslanted palpebral fissures, Abnormal heart morphology, Low-set, posteriorly rotated ears, Pulmonic stenosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",18678287,130928,"PTPN11","NM_002834.3:c.853T>A",1,3,"Short stature, Abnormal heart morphology, Pulmonic stenosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",18678287,130873,"PTPN11","NM_002834.3:c.853T>A",1,3,"Short stature, Abnormal heart morphology, Pulmonic stenosis",0]
["305100","Ectodermal Dysplasia 1, Hypohidrotic, X-Linked; XHED","y",18702659,243834,"EDA","NM_001399.4:c.952delG",1,10,"Hypotrichosis, Hypohidrosis, Depressed nasal bridge, Episodic fever, Anodontia, Enlarged naris, Prominence of the zygomatic bone, Thick lower lip vermilion, Thick upper lip vermilion, Prominent forehead",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",19449407,131121,"PTPN11","NM_002834.3:c.5C>T",1,19,"Delayed speech and language development, Hypertelorism, Growth delay, Global developmental delay, Fetal pyelectasis, Expressive language delay, Motor delay, Clinodactyly of the 5th finger, Polyhydramnios, Cafe-au-lait spot, Wide nasal bridge, Tapered finger, Low posterior hairline, Low-set ears, Narrow mouth, Optic atrophy, Optic nerve glioma, Short neck, Wide intermamillary distance",0]
["133540","Cockayne Syndrome B; CSB","y",21376145,130024,"ERCC6","NM_000124.3:c.2779_2782delAACA",1,4,"Delayed eruption of permanent teeth, Coarse hair, Brachycephaly, Long philtrum",0]
["610954","Pitt-Hopkins Syndrome; PTHS","y",21671391,127059,"TCF4","NM_001083962.1:c.550-1G>C",1,10,"Delayed speech and language development, Motor delay, Postnatal microcephaly, Ataxia, Intellectual disability, severe, Seizures, Intermittent hyperventilation, Stereotypical hand wringing, Thick vermilion border, Strabismus",3,"Postnatal growth retardation, Constipation, Happy demeanor"]
["610954","Pitt-Hopkins Syndrome; PTHS","y",21671391,127056,"TCF4","NM_001083962.1:c.1733G>A",1,11,"Delayed speech and language development, Motor delay, Ataxia, Bruxism, Abnormality of the cerebral ventricles, Intellectual disability, severe, Seizures, Intermittent hyperventilation, Stereotypical hand wringing, Strabismus, Happy demeanor",1,"Constipation"]
["270400","Smith-Lemli-Opitz Syndrome; SLOS","y",21696385,146436,"DHCR7","NM_001360.2:c.1055G>A",1,18,"Delayed speech and language development, Hypospadias, High palate, Growth delay, Epicanthus, Agenesis of corpus callosum, Cryptorchidism, Cleft soft palate, 2-3 toe syndactyly, Macrotia, Micrognathia, Muscular hypotonia, Anteverted nares, Enlarged naris, Pyloric stenosis, Thick vermilion border, Microcephaly, Profound global developmental delay",0]
["252900, 252920, 252930, 253000, 253010, 253200, 253220, 309900, 601492, 607014, 607015, 607016","Mucopolysaccharidosis, Type II; MPS2","y",22059643,124162,"IDS","NM_000202.5:c.1003C>T",1,12,"Hepatosplenomegaly, Short stature, Flared nostrils, Coarse facial features, Wide nose, Joint stiffness, Peg-shaped maxillary lateral incisors, Prominent supraorbital ridges, Short neck, Tracheomalacia, Thick vermilion border, Macrocephaly",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",22405089,121659,"ARID1B","NM_020732.3:c.4038T>A",1,11,"Hypopigmentation of the skin, Hypertelorism, Dental malocclusion, Delayed eruption of permanent teeth, Motor delay, Low-set, posteriorly rotated ears, Microretrognathia, Myopia, Poor speech, Seizures, Moderate global developmental delay",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",22405089,121657,"ARID1B","NM_020732.3:c.4110G>A",1,12,"Hypertrichosis, High palate, Cleft palate, Abnormality of the pinna, Abnormality of the calvaria, Low anterior hairline, Low-set, posteriorly rotated ears, Microdontia, Muscular hypotonia, Seizures, Prominent nasal tip, Moderate global developmental delay",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",22405089,121645,"ARID1B","NM_020732.3:c.6463_6473delAGCATTGGAAA",1,16,"Downslanted palpebral fissures, Cryptorchidism, Cleft palate, Atrial septal defect, Aplasia/Hypoplasia of the nails, Absent speech, Abnormality of the pinna, Microdontia, Muscular hypotonia, Myopia, Single transverse palmar crease, Sandal gap, Prominent nasal tip, Moderate global developmental delay, Thin upper lip vermilion, Strabismus",0]
["614609","Coffin-Siris Syndrome 4; CSS","y",22426308,144384,"SMARCA4","NM_001128849.1:c.3469C>G",1,17,"Short 5th finger, Hypoplastic fifth fingernail, Hypertrichosis, Depressed nasal bridge, Cleft palate, Atrial septal defect, Long eyelashes, Patent ductus arteriosus, Abnormal right ventricle morphology, Pulmonary valve atresia, Mitral atresia, Short 5th toe, Hypoplastic fifth toenail, Thick lower lip vermilion, Ptosis, Sparse scalp hair, Feeding difficulties",0]
["614609","Coffin-Siris Syndrome 4; CSS","y",22426308,144383,"SMARCA4","NM_001128849.1:c.2761C>T",1,20,"Visual impairment, Hypoplastic fifth fingernail, Hypertrichosis, High palate, Depressed nasal bridge, Duodenal ulcer, Constipation, Absent speech, Patent ductus arteriosus, Seizures, Ventricular septal defect, Recurrent infections, Long eyebrows, Severe global developmental delay, Hypoplastic fifth toenail, Thick lower lip vermilion, Thin upper lip vermilion, Ptosis, Thick eyebrow, Sparse scalp hair",0]
["614609","Coffin-Siris Syndrome 4; CSS","y",22426308,144381,"SMARCA4","NM_001128849.1:c.2576C>T",1,21,"Impulsivity, Visual impairment, Hypoplastic fifth fingernail, Hypertrichosis, Hyperactivity, High palate, Hearing impairment, Everted upper lip vermilion, Long eyelashes, Muscular hypotonia, Narrow nasal bridge, Poor speech, Recurrent infections, Severe global developmental delay, Hypoplastic fifth toenail, Thick lower lip vermilion, Short philtrum, Ptosis, Thick eyebrow, Sparse scalp hair, Feeding difficulties",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",22426309,144491,"ARID1B","NM_020732.3:c.5329A>T",1,11,"Short 5th finger, Short toe, Hypertrichosis, Agenesis of corpus callosum, Autism, Intellectual disability, severe, Joint laxity, Low anterior hairline, Strabismus, Thick eyebrow, Colpocephaly",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",22426309,144492,"ARID1B","NM_020732.3:c.3223C>T",1,11,"Delayed speech and language development, Short 5th finger, Hypoplastic fifth fingernail, Short toe, Hypertrichosis, Coarse facial features, Intellectual disability, severe, Joint laxity, Partial agenesis of the corpus callosum, Prominent fingertip pads, Thick eyebrow",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",22426309,144493,"ARID1B","NM_020732.3:c.4619_4628del",1,10,"Delayed speech and language development, Hypoplastic fifth fingernail, Hypertrichosis, Agenesis of corpus callosum, Coarse facial features, Intellectual disability, moderate, Low anterior hairline, Strabismus, Thick eyebrow, Colpocephaly",0]
["602483, 615706","Auriculocondylar Syndrome","y",22560091,129160,"GNAI3","NM_006496.3:c.118G>C",1,4,"Micrognathia, Thin upper lip vermilion, Sparse and thin eyebrow, Question mark ear",0]
["603736","Ohdo Syndrome, SBBYS Variant; SBBYSS","y",22715153,128425,"KAT6B","NM_012330.3:c.4205_4206delCT",1,11,"Generalized hypotonia, Blepharophimosis, Abnormality of the thumb, Abnormality of the dentition, Intellectual disability, Long hallux, Mask-like facies, Narrow mouth, Prominent nasal tip, Thin upper lip vermilion, Feeding difficulties",0]
["150230, 190350, 190351","Trichorhinophalangeal Syndrome","y",23691375,130006,"TRPS1","NM_014112.2:c.2086C>T, NM_014112.2:c.1198C>T, NM_014112.2:c.2086C>T",1,14,"Fair hair, Bulbous nose, Blue sclerae, Aplasia/Hypoplasia of the nails, Abnormality of toe proximal phalanx, Abnormality of the proximal phalanges of the hand, Abnormality of the middle phalanges of the toes, Abnormality of the middle phalanges of the hand, Sparse lateral eyebrow, Long philtrum, Pear-shaped nose, Thin vermilion border, Sparse scalp hair, Chin with horizontal crease",0]
["615355","Noonan Syndrome 8; NS8","y",23791108,131421,"RIT1","NM_006912.5:c.247A>C",1,4,"Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular extrasystoles, Telecanthus",0]
["615355","Noonan Syndrome 8; NS8","y",23791108,131418,"RIT1","NM_006912.5:c.270G>T",1,11,"Hypertrophic cardiomyopathy, Hypertelorism, Broad forehead, Generalized hyperpigmentation, Atrial septal defect, Patent ductus arteriosus, Prominent fingertip pads, Ventricular septal defect, Pulmonic stenosis, Ptosis, Sparse and thin eyebrow",0]
["615355","Noonan Syndrome 8; NS8","y",23791108,131425,"RIT1","NM_006912.5:c.104G>C",1,5,"Hypertrophic cardiomyopathy, Epicanthus, Downslanted palpebral fissures, Mitral regurgitation, Mitral valve prolapse",0]
["615355","Noonan Syndrome 8; NS8","y",23791108,131420,"RIT1","NM_006912.5:c.284G>C",1,3,"Hypertrophic cardiomyopathy, Pulmonic stenosis, Telecanthus",0]
["615355","Noonan Syndrome 8; NS8","y",23791108,131424,"RIT1","NM_006912.5:c.246T>G",1,7,"Hypertelorism, Epicanthus, Atrial septal defect, Low-set ears, Pulmonic stenosis, Telecanthus, Sparse and thin eyebrow",0]
["615355","Noonan Syndrome 8; NS8","y",23791108,131426,"RIT1","NM_006912.5:c.246T>G",1,2,"Ventricular septal defect, Pulmonic stenosis",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",23815551,144473,"ARID1B","NM_020732.3:c.6382C>T",1,4,"Global developmental delay, Coarse facial features, Thick vermilion border, Thick eyebrow",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",23815551,144470,"ARID1B","NM_020732.3:c.4821del",1,4,"Global developmental delay, Coarse facial features, Thick vermilion border, Thick eyebrow",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",23815551,144474,"ARID1B","NM_020732.3:c.5623_5625delGCAinsTGACGTCT, NM_020732.3:c.5623_5625delGCAinsTGACGTCT",1,4,"Global developmental delay, Coarse facial features, Thick vermilion border, Thick eyebrow",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",23815551,144471,"ARID1B","NM_020732.3:c.4009C>T",1,4,"Global developmental delay, Coarse facial features, Thick vermilion border, Thick eyebrow",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",23815551,144475,"ARID1B","NM_020732.3:c.1713del",1,4,"Global developmental delay, Coarse facial features, Thick vermilion border, Thick eyebrow",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",23815551,144469,"ARID1B","NM_020732.3:c.2062del",1,4,"Global developmental delay, Coarse facial features, Thick vermilion border, Thick eyebrow",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",23815551,144472,"ARID1B","NM_020732.3:c.1392_1402del",1,4,"Global developmental delay, Coarse facial features, Thick vermilion border, Thick eyebrow",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",23815551,144476,"ARID1B","NM_020732.3:c.4820_4825delCCTTTCinsAGGCT, NM_020732.3:c.4820_4825delCCTTTCinsAGGCT",1,4,"Global developmental delay, Coarse facial features, Thick vermilion border, Thick eyebrow",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome 3; CSS3","y",23906836,140803,"SMARCB1","NM_003073.3:c.1121G>A",1,27,"Visual impairment, Hypoplastic toenails, Hypoplastic fingernail, Hirsutism, Hearing impairment, Depressed nasal bridge, Delayed skeletal maturation, Cryptorchidism, Coarse facial features, Atrial septal defect, Aplasia/Hypoplasia of the distal phalanx of the 4th toe, Aplasia/Hypoplasia of the distal phalanx of the 4th finger, Aplasia/Hypoplasia of the distal phalanx of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of the 3rd finger, Aplasia/Hypoplasia of the distal phalanx of the 2nd toe, Aplasia/Hypoplasia of the distal phalanx of the 2nd finger, Intellectual disability, moderate, Long eyelashes, Low anterior hairline, Macroglossia, Wide mouth, Seizures, Ventricular septal defect, Pulmonic stenosis, Sandal gap, Scoliosis, Recurrent infections",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",23906836,140808,"ARID1B","NM_020732.3:c.2248C>T",1,21,"Hypoplastic fifth fingernail, Hirsutism, Global developmental delay, Cryptorchidism, Conical tooth, Coarse facial features, Wide nose, Abnormality of the outer ear, Abnormality of the corpus callosum, Intellectual disability, Long eyelashes, Low anterior hairline, Macroglossia, Wide mouth, Prominent fingertip pads, Umbilical hernia, Thick nasal alae, Hypoplastic fifth toenail, Thick lower lip vermilion, Short philtrum, Thick eyebrow",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",23906836,140809,"ARID1B","NM_020732.3:c.6328C>T, NM_020732.3:c.6382C>T",1,21,"Seizures, Intellectual disability, Global developmental delay, Abnormality of refraction, Coarse facial features, Thick eyebrow, Long eyelashes, Depressed nasal bridge, Wide nose, Anteverted nares, Thick nasal alae, Wide mouth, Abnormality of the outer ear, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Scoliosis, Cryptorchidism, Autistic behavior, Hirsutism, Sparse scalp hair, Hypoplastic fifth fingernail, Hypoplastic fifth toenail",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",23906836,140815,"ARID1B","NM_020732.3:c.6041G>A",1,24,"Hyperactivity, Hirsutism, Depressed nasal bridge, Coarse facial features, Wide nose, Aplasia/Hypoplasia of the distal phalanx of the 5th toe, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Intellectual disability, severe, Long eyelashes, Low anterior hairline, Muscular hypotonia, Anteverted nares, Patent foramen ovale, Wide mouth, Sandal gap, Prominent interphalangeal joints, Thick nasal alae, Hypoplastic fifth toenail, Thick lower lip vermilion, Short philtrum, Ptosis, Thick eyebrow, Sparse scalp hair, Narrow palpebral fissure",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",23906836,140811,"ARID1B","NM_020732.3:c.2723delC",1,31,"Short middle phalanx of the 5th finger, Short distal phalanx of finger, Hirsutism, Delayed skeletal maturation, Coarse facial features, Choroid plexus cyst, Wide nose, Aggressive behavior, Intellectual disability, Long eyelashes, Long philtrum, Low anterior hairline, Low-set ears, Macroglossia, Mitral regurgitation, Muscular hypotonia, Large earlobe, Wide mouth, Seizures, Short distal phalanx of toe, Recurrent infections, Thick nasal alae, Thick lower lip vermilion, Thin upper lip vermilion, Strabismus, Thick eyebrow, Synophrys, Sparse scalp hair, Unilateral cryptorchidism, Narrow palpebral fissure, Feeding difficulties",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",23906836,140812,"ARID1B","NM_020732.3:c.2692C>T",1,25,"Inappropriate behavior, Short distal phalanx of finger, Hirsutism, Depressed nasal bridge, Excessive wrinkled skin, Delayed eruption of teeth, Coarse facial features, Wide nose, Abnormality of the outer ear, Intellectual disability, moderate, Long eyelashes, Long philtrum, Low anterior hairline, Macroglossia, Muscular hypotonia, Wide mouth, Prominent fingertip pads, Short distal phalanx of toe, Prominent interphalangeal joints, Thick nasal alae, Thick lower lip vermilion, Thin upper lip vermilion, Thick eyebrow, Synophrys, Narrow palpebral fissure",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",23906836,140807,"ARID1B","NM_020732.3:c.2248C>T, NM_020732.3:c.2248C>T",1,12,"Global developmental delay, Generalized hypotonia, Depressed nasal bridge, Coarse facial features, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Intellectual disability, Long eyelashes, Low anterior hairline, Wide mouth, Seizures, Recurrent infections, Prominent interphalangeal joints",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",23906836,140816,"ARID1B","NM_020732.3:c.6439dupA",1,18,"Hypoplastic fifth fingernail, Hirsutism, Cryptorchidism, Coarse facial features, Aplasia/Hypoplasia of the distal phalanx of the 5th toe, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Absent speech, Intellectual disability, moderate, Long philtrum, Low anterior hairline, Muscular hypotonia, Anteverted nares, Wide mouth, Seizures, Sandal gap, Prominent interphalangeal joints, Thick nasal alae, Hypoplastic fifth toenail",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",23906836,140810,"ARID1B","NM_020732.3:c.4216_4217insTGCTGCTGCTCCTACTCGG",1,28,"Hypoplastic fifth fingernail, Hirsutism, Depressed nasal bridge, Excessive wrinkled skin, Delayed eruption of primary teeth, Coarse facial features, Aplasia/Hypoplasia of the distal phalanx of the 5th toe, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Abnormality of the outer ear, Abnormality of the corpus callosum, Intellectual disability, Long eyelashes, Long philtrum, Low anterior hairline, Macroglossia, Muscular hypotonia, Anteverted nares, Wide mouth, Prominent interphalangeal joints, Thick nasal alae, Thick lower lip vermilion, Thin upper lip vermilion, Ptosis, Thick eyebrow, Synophrys, Sparse scalp hair, Mild hearing impairment, Feeding difficulties",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",23906836,140813,"ARID1B","NM_020732.3:c.1808dupG",1,26,"Hypoplastic fifth fingernail, Hirsutism, Depressed nasal bridge, Excessive wrinkled skin, Delayed skeletal maturation, Delayed eruption of teeth, Coarse facial features, Wide nose, Aplasia/Hypoplasia of the distal phalanx of the 5th toe, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Intellectual disability, Long eyelashes, Low anterior hairline, Macroglossia, Muscular hypotonia, Wide mouth, Prominent fingertip pads, Thick nasal alae, Hypoplastic fifth toenail, Thick lower lip vermilion, Thin upper lip vermilion, Short philtrum, Ptosis, Thick eyebrow, Synophrys, Feeding difficulties",0]
["268400","Rothmund-Thomson Syndrome; RTS","y",24518840,129586,"RECQL4","NM_004260.3:c.2272C>T, NM_004260.3:c.2492_2493delAT",1,6,"Multiple cafe-au-lait spots, Cutaneous photosensitivity, Poikiloderma, Sparse eyelashes, Sparse and thin eyebrow, Sparse scalp hair",0]
["614609","Coffin-Siris Syndrome 4; CSS","y",24700502,144513,"SMARCA4","NM_001128849.1:c.2434C>T",1,25,"Visual impairment, Short 5th finger, Hypoplasia of the corpus callosum, Hypoplastic fifth fingernail, High palate, Hearing impairment, Feeding difficulties in infancy, Aplasia/Hypoplasia of the nails, Absent speech, Abnormality of the pinna, Muscular hypotonia, Narrow nasal bridge, Scoliosis, Repetitive compulsive behavior, Thick nasal alae, Severe global developmental delay, Narrow philtrum, Short 5th toe, Hypoplastic fifth toenail, Thick lower lip vermilion, Thin upper lip vermilion, Ptosis, Thick eyebrow, Prominent eyelashes, Feeding difficulties",0]
["615355","Noonan Syndrome 8; NS8","y",24939608,131455,"RIT1","NM_006912.5:c.270G>C",1,19,"Hypertrophic cardiomyopathy, Hypertelorism, Hyperbilirubinemia, Short stature, Global developmental delay, Fetal cystic hygroma, Epicanthus, Deep philtrum, Blue irides, Abnormal heart morphology, Intellectual disability, Low posterior hairline, Low-set ears, Lymphedema, Thickened helices, Webbed neck, Short neck, Pulmonic stenosis, Respiratory insufficiency",0]
["615355","Noonan Syndrome 8; NS8","y",24939608,131454,"RIT1","NM_006912.5:c.244T>G",1,27,"Delayed speech and language development, Hypertrophic cardiomyopathy, Hypertelorism, Hyperbilirubinemia, Hemangioma, Generalized hyperpigmentation, Few cafe-au-lait spots, Failure to thrive, Epicanthus, Downslanted palpebral fissures, Deep philtrum, Chylothorax, Bruising susceptibility, Blue irides, Atrial septal defect, Abnormality of the coagulation cascade, Increased nuchal translucency, Low posterior hairline, Low-set ears, Patent ductus arteriosus, Pectus carinatum, Thickened helices, Short neck, Ventricular septal defect, Pulmonic stenosis, Respiratory insufficiency, Feeding difficulties",0]
["270400","Smith-Lemli-Opitz Syndrome; SLOS","y",24954735,146351,"DHCR7","NM_001360.2:c.278C>T, NM_001360.2:c.964-1G>C, NM_001360.2:c.278C>T, NM_001360.2:c.964-1G>C",1,24,"Hypocholesterolemia, Growth delay, Global developmental delay, Feeding difficulties in infancy, Epicanthus, Elevated 7-dehydrocholesterol, Cryptorchidism, Cleft palate, Self-injurious behavior, Aplasia/Hypoplasia of the thumb, Aggressive behavior, 2-3 toe syndactyly, Intellectual disability, Low-set ears, Micrognathia, Muscular hypotonia, Anteverted nares, Narrow forehead, Penoscrotal hypospadias, Pierre-Robin sequence, Protruding ear, Vitiligo, Ptosis, Mild microcephaly",0]
["119600","Cleidocranial Dysplasia; CCD","y",24966961,212560,"RUNX2","NM_001024630.3:c.1271delC",1,15,"Short clavicles, Hypoplasia of the maxilla, Short distal phalanx of finger, Depressed nasal bridge, Failure of eruption of permanent teeth, Dental malocclusion, Aplastic clavicles, Aplasia/Hypoplasia of the nasal bone, Abnormality of the midface, Abnormal number of permanent teeth, Mandibular prognathia, Multiple unerupted teeth, Persistence of primary teeth, Wormian bones, Abnormality of the shape of the midface",0]
["119600","Cleidocranial Dysplasia; CCD","y",24966961,212550,"RUNX2","NM_001024630.3:c.1271delC, NM_001024630.3:c.1271delC",1,18,"Short clavicles, Hypoplasia of the nasal bone, Hypoplasia of the maxilla, Short distal phalanx of finger, Depressed nasal bridge, Failure of eruption of permanent teeth, Dental malocclusion, Aplasia/Hypoplasia of the clavicles, Shortening of all distal phalanges of the toes, Abnormality of the thorax, Abnormality of the midface, Abnormal number of permanent teeth, Increased number of teeth, Mandibular prognathia, Multiple unerupted teeth, Persistence of primary teeth, Wormian bones, Abnormality of the shape of the midface",0]
["230740","Gapo Syndrome","y",25045128,124166,"ANTXR1","NM_032208.2:c.411A>G",1,20,"Hypertelorism, Hypermyelinated retinal nerve fibers, Postnatal growth retardation, Depressed nasal bridge, Dysharmonic delayed bone age, Delayed closure of the anterior fontanelle, Aplasia/Hypoplasia of the nipples, Anodontia, Alopecia, Abnormal eyelid morphology, Long philtrum, Low-set ears, Micrognathia, Anteverted nares, Optic atrophy, Unerupted tooth, Umbilical hernia, Relative macrocephaly, Sparse and thin eyebrow, Frontal bossing",0]
["615355","Noonan Syndrome 8; NS8","y",25124994,131440,"RIT1","NM_006912.5:c.246T>A",1,11,"Hypertelorism, Short stature, Downslanted palpebral fissures, Cystic hygroma, Atrial septal defect, Low-set, posteriorly rotated ears, Short neck, Ventricular septal defect, Pulmonic stenosis, Relative macrocephaly, Sparse and thin eyebrow",0]
["615355","Noonan Syndrome 8; NS8","y",25124994,131438,"RIT1","NM_006912.5:c.284G>C",1,15,"Hypertelorism, Hyperextensible skin, Broad forehead, Excessive wrinkling of palmar skin, Downslanted palpebral fissures, Curly hair, Cryptorchidism, Abnormality of the sternum, Left ventricular hypertrophy, Low-set, posteriorly rotated ears, Webbed neck, Scoliosis, Relative macrocephaly, Ptosis, Sparse and thin eyebrow",0]
["615355","Noonan Syndrome 8; NS8","y",25124994,131439,"RIT1","NM_006912.5:c.170C>G",1,9,"Hyperextensible skin, Short stature, Graves disease, Excessive wrinkling of palmar skin, Curly hair, Left ventricular hypertrophy, Webbed neck, Short neck, Pulmonic stenosis",0]
["614608","Coffin-Siris Syndrome 3; CSS3","y",25168959,144415,"SMARCB1","NM_003073.3:c.1091_1093del",1,20,"Visual impairment, Short 5th finger, Hypoplastic fifth fingernail, Hypertrichosis, Horseshoe kidney, Hearing impairment, Dextrocardia, Wide nasal bridge, Absent speech, Long eyelashes, Long philtrum, Myopia, Seizures, Pulmonic stenosis, Pyloric stenosis, Severe global developmental delay, Hypoplastic fifth toenail, Thin upper lip vermilion, Thick eyebrow, Feeding difficulties",0]
["614609","Coffin-Siris Syndrome 4; CSS","y",25168959,144439,"SMARCA4","NM_001128849.1:c.1372_1395del",1,17,"Short 5th finger, Hypoplastic fifth fingernail, Hypertrichosis, Hearing impairment, Global developmental delay, Depressed nasal bridge, Dandy-Walker malformation, Cleft palate, Cerebellar hypoplasia, Abnormality of the corpus callosum, Long eyelashes, Short 5th toe, Hypoplastic fifth toenail, Thick lower lip vermilion, Thick eyebrow, Sparse scalp hair, Feeding difficulties",0]
["614609","Coffin-Siris Syndrome 4; CSS","y",25168959,144443,"SMARCA4","NM_001128849.1:c.3380A>G",1,20,"Short 5th finger, Hypoplastic fifth fingernail, Hypertrichosis, High palate, Feeding difficulties in infancy, Constipation, Self-injurious behavior, Abnormality of the corpus callosum, Inguinal hernia, Long philtrum, Muscular hypotonia, Obsessive-compulsive behavior, Scoliosis, Recurrent infections, Moderate global developmental delay, Hypoplastic fifth toenail, Thin upper lip vermilion, Broad philtrum, Ptosis, Thick eyebrow",0]
["614609","Coffin-Siris Syndrome 4; CSS","y",25168959,144438,"SMARCA4","NM_001128849.1:c.1349C>A",1,21,"Short 5th finger, Hypoplastic fifth fingernail, Hypertrichosis, Gastroesophageal reflux, Dandy-Walker malformation, Cryptorchidism, Abnormality of the corpus callosum, Abnormality of renal calyx morphology, Long eyelashes, Long philtrum, Muscular hypotonia, Poor speech, Short attention span, Pyloric stenosis, Recurrent infections, Severe global developmental delay, Nasogastric tube feeding in infancy, Hypoplastic fifth toenail, Thick lower lip vermilion, Ptosis, Feeding difficulties",0]
["614609","Coffin-Siris Syndrome 4; CSS","y",25168959,144440,"SMARCA4","NM_001128849.1:c.2654G>A",1,18,"Hyperactivity, High palate, Gastroesophageal reflux, Depressed nasal bridge, Abnormality of the cardiovascular system, Inguinal hernia, Long eyelashes, Muscular hypotonia, Umbilical hernia, Recurrent infections, Moderate global developmental delay, Short 5th toe, Hypoplastic fifth toenail, Thick lower lip vermilion, Short philtrum, Ptosis, Thick eyebrow, Feeding difficulties",0]
["614608","Coffin-Siris Syndrome 3; CSS3","y",25249037,144504,"SMARCB1","NM_003073.3:c.1096C>T",1,22,"Delayed speech and language development, Hydrocele testis, Depressed nasal bridge, Coarse facial features, Wide nose, Abnormality of the pinna, Abnormality of the corpus callosum, Inguinal hernia, Intellectual disability, Long eyelashes, Long philtrum, Low anterior hairline, Macroglossia, Anteverted nares, Wide mouth, Thick nasal alae, Hypoplastic fifth toenail, Thick lower lip vermilion, Thin upper lip vermilion, Thick eyebrow, Sparse scalp hair, Feeding difficulties",0]
["607014","Hurler Syndrome","y",25256405,245705,"IDUA","NM_000203.3:c.53T>C",2,22,"Failure to thrive, Esophagitis, Episodic vomiting, Enlarged epiphyses of the proximal phalanges of the hand, Enlarged epiphyses of the middle phalanges of the hand, Split hand, EMG abnormality, Urinary glycosaminoglycan excretion, Limitation of joint mobility, Asthma, Abnormality of the epiphysis of the femoral head, Increased bone mineral density, Lumbar hyperlordosis, Obstructive lung disease, Vomiting, Recurrent respiratory infections, Scoliosis, Constrictive median neuropathy, Lower limb pain, Corneal opacity, Shoulder pain, Abnormality of odontoid tissue",1,"Intellectual disability"]
["608572","Burn-Mckeown Syndrome; BMKS","y",25434003,241333,"TXNL4A","NM_006701.2:c.37C>T",1,9,"Hypertelorism, Prominent nasal bridge, Hearing impairment, Lower eyelid coloboma, Choanal atresia, Abnormal eyelid morphology, Short philtrum, Short palpebral fissure, Cleft lip",1,"Global developmental delay"]
["180850, 610543, 613684","Rubinstein-Taybi Syndrome","y",25721637,204541,"CREBBP","NM_004380.2:c.6127C>T",1,27,"Hypertension, Hypertelorism, Hirsutism, Highly arched eyebrow, High palate, Global developmental delay, Glaucoma, Gait disturbance, Dental crowding, Constipation, Broad hallux, Broad thumb, Wide nasal bridge, Abnormality of the nasal septum, Intellectual disability, Keloids, Large beaked nose, Long eyelashes, Microretrognathia, Narrow mouth, Neoplasm of the skin, Nevus flammeus, Recurrent infections, Type II diabetes mellitus, Microcephaly, Strabismus, Prominent forehead",0]
["601358","Nicolaides-Baraitser Syndrome; NCBRS","y",25724810,141360,"SMARCA2","NM_003070.3:c.3457_3462delGATCTG",1,29,"Hyperactivity, Hirsutism, Depressed nasal bridge, Excessive wrinkled skin, Cow milk allergy, Coarse facial features, Wide nose, Aplasia/Hypoplasia of the distal phalanx of the 5th toe, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Abnormality of the pinna, Inguinal hernia, Intellectual disability, mild, Long philtrum, Anteverted nares, Wide mouth, Seizures, Umbilical hernia, Sandal gap, Prominent interphalangeal joints, Thick nasal alae, Short metacarpal, Short metatarsal, Thick lower lip vermilion, Thin upper lip vermilion, Ptosis, Thick eyebrow, Sparse scalp hair, Noncompaction cardiomyopathy, Feeding difficulties",0]
["601358","Nicolaides-Baraitser Syndrome; NCBRS","y",25724810,141359,"SMARCA2","NM_003070.3:c.3655G>C",1,31,"Hypothyroidism, Short phalanx of finger, Hypoplastic fingernail, Hyperactivity, Excessive wrinkled skin, Delayed skeletal maturation, Cryptorchidism, Coarse facial features, Wide nose, Aplasia/Hypoplasia of toe, Inguinal hernia, Intellectual disability, moderate, Long eyelashes, Long philtrum, Low anterior hairline, Muscular hypotonia, Anteverted nares, Patent foramen ovale, Posteriorly rotated ears, Wide mouth, Protruding ear, Umbilical hernia, Sandal gap, Recurrent infections, Prominent interphalangeal joints, Thick nasal alae, Thick lower lip vermilion, Thin upper lip vermilion, Thick eyebrow, Sparse scalp hair, Feeding difficulties",0]
["601358","Nicolaides-Baraitser Syndrome; NCBRS","y",25724810,141354,"SMARCA2","NM_003070.3:c.2642G>A",1,25,"Hirsutism, Hearing impairment, Depressed nasal bridge, Excessive wrinkled skin, Cryptorchidism, Coarse facial features, Wide nose, Absent speech, Inguinal hernia, Intellectual disability, moderate, Long eyelashes, Low anterior hairline, Muscular hypotonia, Wide mouth, Prominent fingertip pads, Seizures, Umbilical hernia, Sandal gap, Prominent interphalangeal joints, Thick nasal alae, Thick lower lip vermilion, Short philtrum, Ptosis, Thick eyebrow, Sparse scalp hair",0]
["180850, 610543, 613684","Rubinstein-Taybi Syndrome","y",25768348,204527,"CREBBP","NM_004380.2:c.2199delG, NM_004380.2:c.2199delG, NM_004380.2:c.2199delG",1,46,"Impaired social interactions, Short toe, Hypoalbuminemia, Short distal phalanx of finger, Hyperactivity, Highly arched eyebrow, Hallux valgus, Postnatal growth retardation, Growth delay, Global developmental delay, Failure to thrive, Facial hypertrichosis, Expressive language delay, Dysphagia, Downslanted palpebral fissures, Dental crowding, Delayed ossification of carpal bones, Congenital cataract, Clinodactyly of the 5th finger, Broad toe, Broad hallux, Wide nasal bridge, Broad distal phalanx of the 4th finger, Broad distal phalanx of the 3rd finger, Abnormality of zinc homeostasis, Abnormality of toe, Abnormality of digit, Abnormality of lower lip, Intellectual disability, Large beaked nose, Long eyelashes, Micrognathia, Nasolacrimal duct obstruction, Pachygyria, Stereotypy, Autistic behavior, Poor motor coordination, Short attention span, Talipes equinovarus, Thoracic hypertrichosis, Abnormal social behavior, Microcephaly, Macroscopic hematuria, Pilomatrixoma, Abnormality of cartilage of nasal septum, Snoring",1,"Abnormality of the kidney"]
["603736","Ohdo Syndrome, SBBYS Variant; SBBYSS","y",26334766,128546,"KAT6B","NM_012330.3:c.3147G>A",1,13,"Delayed speech and language development, Infantile axial hypotonia, Global developmental delay, Generalized hypotonia, Motor delay, Deep philtrum, Blepharophimosis, Increased thyroid-stimulating hormone level, Intellectual disability, Large hands, Stenosis of the external auditory canal, Strabismus, Ptosis",0]
["603736","Ohdo Syndrome, SBBYS Variant; SBBYSS","y",26334766,128547,"KAT6B","NM_012330.3:c.3147G>A",2,18,"Delayed speech and language development, Short stature, Global developmental delay, Generalized hypotonia, Enlarged thumb epiphysis, Motor delay, Cerebral cortical atrophy, Blepharophimosis, Atrial septal defect, Inguinal hernia, Intrauterine growth retardation, Tremor, Joint hypermobility, Muscular hypotonia, Myopia, Ventricular septal defect, Strabismus, Feeding difficulties",0]
["603736","Ohdo Syndrome, SBBYS Variant; SBBYSS","y",26334766,128548,"KAT6B","NM_012330.3:c.3147G>A",3,10,"Hypertelorism, Global developmental delay, Feeding difficulties in infancy, Blepharophimosis, Intellectual disability, Microdontia of primary teeth, Microtia, Episodic upper airway obstruction, Preaxial polydactyly, Ptosis",0]
["615355","Noonan Syndrome 8; NS8","y",26714497,131458,"RIT1","NM_006912.5:c.170C>G",1,21,"Hypertelorism, Short stature, Fetal pyelectasis, Failure to thrive, Downslanted palpebral fissures, Cleft palate, Polyhydramnios, Atrial septal defect, Abnormality of refraction, Increased nuchal translucency, Low posterior hairline, Low-set ears, Pectus excavatum, Patent ductus arteriosus, Recurrent otitis media, Webbed neck, Short neck, Thin skin, Soft skin, Pulmonic stenosis, Ptosis",0]
["615355","Noonan Syndrome 8; NS8","y",26714497,131459,"RIT1","NM_006912.5:c.229G>A",1,12,"Fine hair, Excessive wrinkling of palmar skin, Epicanthus, Congenital cataract, Chylothorax, Atrial septal defect, Intellectual disability, Low-set ears, Webbed neck, Short neck, Pulmonic stenosis, Feeding difficulties",0]
["615355","Noonan Syndrome 8; NS8","y",26714497,131460,"RIT1","NM_006912.5:c.284G>C",1,12,"Hypertelorism, Short stature, Epicanthus, Premature atrial contractions, Downslanted palpebral fissures, Chylothorax, Arrhythmia, Low-set ears, Large for gestational age, Patent ductus arteriosus, Intermittent thrombocytopenia, Feeding difficulties",0]
["615355","Noonan Syndrome 8; NS8","y",26714497,131461,"RIT1","NM_006912.5:c.270G>C",1,19,"Hypertrophic cardiomyopathy, Hypertelorism, Hydrops fetalis, Short stature, Failure to thrive, Excessive wrinkling of palmar skin, Downslanted palpebral fissures, Curly hair, Cryptorchidism, Chylothorax, Polyhydramnios, Atrial septal defect, Abnormality of the sternum, Intellectual disability, Low-set ears, Large for gestational age, Patent ductus arteriosus, Webbed neck, Relative macrocephaly",0]
["615355","Noonan Syndrome 8; NS8","y",26757980,131471,"RIT1","NM_006912.5:c.104G>C",1,3,"Hypertelorism, Low-set ears, Sparse and thin eyebrow",0]
["615355","Noonan Syndrome 8; NS8","y",26757980,131470,"RIT1","NM_006912.5:c.244T>C",1,4,"Hypertelorism, Long philtrum, Low-set ears, Thin upper lip vermilion",0]
["615355","Noonan Syndrome 8; NS8","y",26757980,131475,"RIT1","NM_006912.5:c.104G>C",1,4,"Hypertelorism, Downslanted palpebral fissures, Long philtrum, Ptosis",0]
["615355","Noonan Syndrome 8; NS8","y",26757980,131469,"RIT1","NM_006912.5:c.242A>G",1,1,"Ptosis",0]
["615355","Noonan Syndrome 8; NS8","y",26757980,131474,"RIT1","NM_006912.5:c.284G>C",1,4,"Hypertelorism, Downslanted palpebral fissures, Ptosis, Sparse and thin eyebrow",0]
["615355","Noonan Syndrome 8; NS8","y",26757980,131472,"RIT1","NM_006912.5:c.284G>C",1,3,"Hypertelorism, Sparse lateral eyebrow, Low-set ears",0]
["602342","Pierpont Syndrome; PRPTS","y",26769062,244232,"TBL1XR1","NM_024665.4:c.1337A>C",1,19,"Short finger, Short toe, High anterior hairline, Short stature, Smooth philtrum, Malar flattening, Microcornea, Decreased body weight, Broad nasal tip, Wide nasal bridge, Atrophy/Degeneration affecting the central nervous system, Intellectual disability, severe, Macrotia, Muscular hypotonia, Widely spaced teeth, Prominent fingertip pads, Scoliosis, Prominent digit pad, Narrow palpebral fissure",0]
["602342","Pierpont Syndrome; PRPTS","y",26769062,244221,"TBL1XR1","NM_024665.4:c.1337A>C",1,17,"Short finger, Short toe, High anterior hairline, Hearing impairment, Smooth philtrum, Ventriculomegaly, Malar flattening, Microcornea, Broad nasal tip, Wide nasal bridge, Atrophy/Degeneration affecting the central nervous system, Intellectual disability, Large fleshy ears, Muscular hypotonia, Prominent fingertip pads, Scoliosis, Prominent digit pad",0]
["147920, 300867","Kabuki Syndrome","y",26841933,124167,"KMT2D","NM_003482.3:c.5625_5628delAGAC",1,28,"Highly arched eyebrow, High anterior hairline, Hearing impairment, Postnatal growth retardation, Global developmental delay, Smooth philtrum, Ectropion of lower eyelids, Ectropion, Brachydactyly, Wide nasal bridge, Blue sclerae, Autism, Aplasia/Hypoplasia of the nails, Abnormality of the testis, Abnormal heart morphology, Intellectual disability, Abnormal renal morphology, Macrotia, Long palpebral fissure, Micrognathia, Muscular hypotonia, Prominent fingertip pads, Short columella, Microcephaly, Ptosis, Sparse and thin eyebrow, Upslanted palpebral fissure, Feeding difficulties",0]
["601358","Nicolaides-Baraitser Syndrome; NCBRS","y",27099726,205119,"SMARCA2","NM_003070.3:c.3493C>A",3,9,"Deeply set eye, Prominent nose, Malar flattening, Coarse facial features, Abnormality of the columella, Mandibular prognathia, Sparse hair, Speech articulation difficulties, Thick vermilion border",0]
["616938","Coffin-Siris Syndrome 5; CSS5","y",27264197,144523,"SMARCE1","NM_003079.4:c.376T>G",1,8,"Global developmental delay, Cryptorchidism, Cleft soft palate, Carious teeth, Laryngotracheomalacia, Muscular hypotonia, Hypoplastic fifth toenail, Feeding difficulties",0]
["616938","Coffin-Siris Syndrome 5; CSS5","y",27264197,144522,"SMARCE1","NM_003079.4:c.218A>G",1,14,"Bilateral sensorineural hearing impairment, Atrioventricular canal defect, Intrauterine growth retardation, Long eyelashes, Low-set ears, Microretrognathia, Patent ductus arteriosus, Sacral dimple, Secundum atrial septal defect, Nasogastric tube feeding in infancy, Hypoplastic fifth toenail, Thick vermilion border, Sparse scalp hair, Absent nail of hallux",0]
["603736","Ohdo Syndrome, SBBYS Variant; SBBYSS","y",27696664,129564,"KAT6B","NM_012330.3:c.5201_5210dupTGCTGCAGCA",1,20,"Postnatal growth retardation, Generalized hypotonia, Enlarged thumb epiphysis, Dolichocephaly, Cryptorchidism, Cleft palate, Bulbous nose, Wide nasal bridge, Blepharophimosis, Intrauterine growth retardation, Knee flexion contracture, Laryngomalacia, Long hallux, Long philtrum, Micrognathia, Patellar hypoplasia, Severe global developmental delay, Thin upper lip vermilion, Thick eyebrow, Small scrotum",0]
["147920, 300867","Kabuki Syndrome","y",27991736,204233,"KMT2D","NM_003482.3:c.10725G>C",33,16,"Delayed speech and language development, High forehead, Gastroesophageal reflux, Smooth philtrum, Conductive hearing impairment, Downslanted palpebral fissures, Clinodactyly of the 5th finger, Choanal atresia, Bifid uvula, Specific learning disability, Anteverted nares, Sensorineural hearing impairment, Oligodontia, Prominent fingertip pads, Thick lower lip vermilion, Thin upper lip vermilion",0]
["147920, 300867","Kabuki Syndrome","y",27991736,204232,"KMT2D","NM_003482.3:c.10725G>C",2,16,"Delayed speech and language development, Highly arched eyebrow, High forehead, Gastroesophageal reflux, Smooth philtrum, Downslanted palpebral fissures, Choanal atresia, Bifid uvula, Atrial septal defect, Sparse lateral eyebrow, Anteverted nares, Sensorineural hearing impairment, Oligodontia, Morphological abnormality of the semicircular canal, Thick lower lip vermilion, Thin upper lip vermilion",0]
["147920, 300867","Kabuki Syndrome","y",27991736,204223,"KMT2D","NM_003482.3:c.10725G>C",17,13,"Delayed speech and language development, High palate, High forehead, Hearing impairment, Smooth philtrum, Downslanted palpebral fissures, Choanal atresia, Anteverted nares, Oligodontia, Scoliosis, Thick lower lip vermilion, Thin upper lip vermilion, Clinodactyly of the 3rd finger",0]
["601358","Nicolaides-Baraitser Syndrome; NCBRS","y",28948053,205117,"SMARCA2","NM_003070.3:c.2564G>A",1,15,"Gingival overgrowth, Coarse facial features, Broad nasal tip, Wide nasal bridge, Broad eyebrow, Intellectual disability, moderate, Long eyelashes, Long philtrum, Low anterior hairline, Wide mouth, Seizures, Prominent interphalangeal joints, Sparse hair, Thick nasal alae, Broad philtrum",0]
["251260","Nijmegen Breakage Syndrome; NBS","y","10852373",247656,"NBN","NM_002485.4:c.657_661delACAAA",1,18,"Hypertelorism, Smooth philtrum, Epicanthus, Downslanted palpebral fissures, IgE deficiency, IgA deficiency, Ataxia, Abnormality of the helix, Abnormal lymphocyte morphology, Large fleshy ears, Long philtrum, Microretrognathia, Muscular hypotonia, Short nose, Recurrent respiratory infections, Premature anterior fontanel closure, Telangiectasia of the skin, Midface retrusion",0]
["235730","Mowat-Wilson Syndrome; MOWS","y","11448942, 9719364",247329,"ZEB2","NM_014795.3:c.594delC",1,28,"Delayed speech and language development, Hypermetropia, High palate, Global developmental delay, Failure to thrive, Deeply set eye, Motor delay, Low hanging columella, Clinodactyly of the 5th finger, Calcaneovalgus deformity, Bulbous nose, Blue irides, Aganglionic megacolon, Absent speech, Long face, Long fingers, Tapered finger, Mandibular prognathia, Muscular hypotonia, Open mouth, Pes planus, Prominent fingertip pads, Seizures, Vomiting, Sparse hair, Strabismus, Ptosis, Uplifted earlobe",0]
["235730","Mowat-Wilson Syndrome; MOWS","y","11448942, 9719364",247325,"ZEB2","NM_014795.3:c.920delA",1,26,"Delayed speech and language development, Global developmental delay, Generalized seizures, Generalized hypotonia, Generalized hyperreflexia, Gastroesophageal reflux, Failure to thrive, Expressive language delay, Downslanted palpebral fissures, Meconium ileus, Motor delay, Low hanging columella, Bulbous nose, Wide nasal bridge, Bilateral single transverse palmar creases, Abdominal distention, Tapered finger, Low-set, posteriorly rotated ears, Mandibular prognathia, Open mouth, Partial agenesis of the corpus callosum, Vesicoureteral reflux, Vomiting, Total colonic aganglionosis, Uplifted earlobe, Sparse eyebrow",0]
["180850, 610543, 613684","Rubinstein-Taybi Syndrome","y","12114483",249555,"CREBBP","NM_004380.2:c.3524A>G",1,12,"Short thumb, Short hallux, Short distal phalanx of finger, Exotropia, Clubbing of toes, Broad hallux, Broad thumb, Bilateral ptosis, Convex nasal ridge, Medially deviated second toe, Posteriorly rotated ears, Round face",0]
["209900, 600151, 605231, 615981, 615982, 615983, 615984, 615985, 615986, 615987, 615988, 615989, 615990, 615991, 615992, 615993, 615994, 615995, 615996","Bardet-Biedl Syndrome","y","12118255",158379,"BBS1","NM_024649.4:c.532G>T, NM_024649.4:c.1169T>G",1,8,"Hypertelorism, Cognitive impairment, Epicanthus, Wide nasal bridge, Multicystic kidney dysplasia, Muscular hypotonia, Autosomal recessive inheritance, Ptosis",0]
["251260","Nijmegen Breakage Syndrome; NBS","y","12123493",247652,"NBN","NM_002485.4:c.657_661delACAAA",1,26,"Delayed speech and language development, Global developmental delay, Embryonal rhabdomyosarcoma, Prominent nose, Motor delay, Decreased proportion of CD4-positive T cells, IgM deficiency, IgG deficiency, IgA deficiency, Clinodactyly of the 5th finger, B lymphocytopenia, 2-3 toe syndactyly, Macrotia, Long nose, Long philtrum, Sloping forehead, Oligohydramnios, Retrognathia, Widely spaced teeth, Ventricular septal defect, Pulmonary arterial hypertension, Rhabdomyosarcoma, Recurrent pneumonia, Prominent ear helix, Microcephaly, Heart murmur",0]
["118450, 610205","Alagille Syndrome","y","12244552",224400,"JAG1","NM_000214.2:c.2504_2508delGAAAG, NM_000214.2:c.2504delGAAAG",1,16,"Hyperbilirubinemia, Depressed nasal tip, Deeply set eye, Posterior embryotoxon, Butterfly vertebrae, Abnormality of the optic nerve, Abnormal finger flexion creases, Prolonged neonatal jaundice, Optic nerve dysplasia, Pointed chin, Tetralogy of Fallot, Reduced number of intrahepatic bile ducts, Unicoronal synostosis, Prominent forehead, Heart murmur, Incomitant strabismus",0]
["118450, 610205","Alagille Syndrome","y","12244552",224399,"JAG1","NM_000214.2:c.2070G>T",2,17,"Hyperbilirubinemia, Depressed nasal tip, Deeply set eye, Craniosynostosis, Cranial asymmetry, Atrial septal defect, Aortic valve stenosis, Jaundice, Prolonged neonatal jaundice, Pointed chin, Pruritus, Xanthomatosis, Pulmonic stenosis, Peripheral pulmonary artery stenosis, Reduced number of intrahepatic bile ducts, Prominent forehead, Fetal distress",0]
["117550, 614753","Sotos Syndrome","y","12525543",249815,"NSD1","NM_022455.4:c.896delC",1,28,"Delayed speech and language development, Hypoplasia of the corpus callosum, Hypertelorism, Hypermetropia, High palate, Frontal balding, Feeding difficulties in infancy, Epicanthus, EEG abnormality, Dilation of lateral ventricles, Motor delay, Accelerated skeletal maturation, Abnormality of the periventricular white matter, Abnormality of the midface, Infantile muscular hypotonia, Long foot, Large hands, Large for gestational age, Maternal diabetes, Micrognathia, Neonatal hypoglycemia, Neonatal hypotonia, Single transverse palmar crease, Deep-set nails, Macrocephaly, Frontal bossing, Prominent forehead, Narrow palpebral fissure",0]
["117550, 614753","Sotos Syndrome","y","12525543",249808,"NSD1","NM_022455.4:c.896delC",1,28,"Delayed speech and language development, Hoarse cry, High palate, Growth abnormality, Facial erythema, Dysharmonic bone age, Downslanted palpebral fissures, Dilation of lateral ventricles, Dental malocclusion, Motor delay, Accelerated skeletal maturation, Abnormality of the midface, Infantile muscular hypotonia, Long foot, Large hands, Large for gestational age, Mandibular prognathia, Neonatal hypoglycemia, Neonatal hypotonia, Pointed chin, Preeclampsia, Macrocephaly, Frontal bossing, Prominent forehead, Midface retrusion, Increased arm span, Heart murmur, Feeding difficulties",0]
["176670","Hutchinson-Gilford Progeria Syndrome; HGPS","y","12702809",226347,"LMNA","NM_170707.3:c.1824C>T",1,1,"Sparse hair",0]
["103470, 148820, 193500, 193510, 277580, 608890, 611584, 613265, 613266","Waardenburg Syndrome, Type 3; WS3","y","12949970",200690,"PAX3","NM_181457.3:c.268T>C",1,21,"Hypopigmentation of the skin, Epicanthus inversus, Depigmentation/hyperpigmentation of skin, Decreased palmar creases, Cutaneous finger syndactyly, Bulbous nose, Blue irides, Abnormality of the wrist, Abnormality of the nose, Narrow naris, Posteriorly rotated ears, Ulnar deviation of the hand or of fingers of the hand, White eyebrow, White eyelashes, Relative macrocephaly, Bilateral wrist flexion contracture, Strabismus, Telecanthus, Abnormal nasal base, Narrow palpebral fissure, Flexion contracture of finger",2,"Developmental regression, Abnormality of the lower limb"]
["608572","Burn-Mckeown Syndrome; BMKS","y","14564154",251323,"TXNL4A","NM_006701.2:c.349G>T",1,19,"Underdeveloped nasal alae, Hypomimic face, Hypertelorism, High, narrow palate, Prominent nasal bridge, Conductive hearing impairment, Downslanted palpebral fissures, Lower eyelid coloboma, Bilateral choanal atresia, 2-3 toe syndactyly, Median cleft palate, Preauricular pit, Narrow mouth, Renal hypoplasia, Renal dysplasia, Thin vermilion border, Protruding ear, Narrow nasal tip, Narrow palpebral fissure",0]
["117550, 614753","Sotos Syndrome","y","14571271",249845,"NSD1","NM_022455.4:c.4895delG",1,3,"Global developmental delay, Accelerated skeletal maturation, Abnormality of the face",0]
["117550, 614753","Sotos Syndrome","y","14571271",249837,"NSD1","NM_022455.4:c.6532_6540delTGCCCCAGC",1,4,"Hypertelorism, Global developmental delay, Accelerated skeletal maturation, Macrocephaly",0]
["117550, 614753","Sotos Syndrome","y","14571271",249836,"NSD1","NM_022455.4:c.3536delA",1,3,"Global developmental delay, Tall stature, Macrocephaly",0]
["117550, 614753","Sotos Syndrome","y","14571271",249838,"NSD1","NM_022455.4:c.6532_6540delTGCCCCAGC",1,2,"Global developmental delay, Tall stature",0]
["117550, 614753","Sotos Syndrome","y","14571271",249841,"NSD1","NM_022455.4:c.3091C>T",1,3,"Global developmental delay, Accelerated skeletal maturation, Abnormality of the face",0]
["235730","Mowat-Wilson Syndrome; MOWS","y","14679597",247339,"ZEB2","NM_014795.3:c.1027C>T",1,19,"Delayed speech and language development, Hypoplasia of the corpus callosum, Hydronephrosis, Global developmental delay, Febrile seizures, Deeply set eye, EEG abnormality, Motor delay, Deep philtrum, Bulbous nose, Wide nasal bridge, Abnormally large globe, Muscular hypotonia, Pointed chin, Recurrent upper respiratory tract infections, Uplifted earlobe, Colpocephaly, Feeding difficulties, Sparse eyebrow",0]
["154500, 248390, 613717","Treacher Collins Syndrome","y","15039977",246184,"TCOF1","NM_000356.3:c.1408_1409delAG",1,8,"Underdeveloped supraorbital ridges, High palate, Downslanted palpebral fissures, Abnormality of the auditory canal, Lacrimal duct aplasia, Micrognathia, Mild conductive hearing impairment, Sparse or absent eyelashes",0]
["154500, 248390, 613717","Treacher Collins Syndrome","y","15214011",246148,"TCOF1","NM_000356.3:c.2731C>T",1,13,"Hydrocephalus, Gastroesophageal reflux, Atresia of the external auditory canal, Downslanted palpebral fissures, Malar flattening, Coronal craniosynostosis, Lower eyelid coloboma, Cleft palate, Choanal atresia, Abnormality of the pinna, Lambdoidal craniosynostosis, Micrognathia, Gastrostomy tube feeding in infancy",0]
["176670","Hutchinson-Gilford Progeria Syndrome; HGPS","y","15286156",226354,"LMNA","NM_170707.3:c.1626G>C",1,16,"Absent eyelashes, Diffuse skin atrophy, Dental crowding, Arthritis, Aplastic clavicles, Alopecia, Acroosteolysis of distal phalanges (feet), Absent eyebrow, Abnormality of skin pigmentation, Joint stiffness, Lipodystrophy, Micrognathia, Osteolytic defects of the distal phalanges of the hand, Persistent open anterior fontanelle, Narrow nasal ridge, Proptosis",0]
["176670","Hutchinson-Gilford Progeria Syndrome; HGPS","y","15286156",226350,"LMNA","NM_170707.3:c.1626G>C",1,16,"Generalized lipodystrophy, Absent eyelashes, Diffuse skin atrophy, Arthritis, Aplasia/Hypoplasia of the clavicles, Alopecia, Acroosteolysis of distal phalanges (feet), Absent eyebrow, Abnormality of skin pigmentation, Joint stiffness, Micrognathia, Narrow nasal bridge, Osteolytic defects of the distal phalanges of the hand, Persistence of primary teeth, Persistent open anterior fontanelle, Proptosis",0]
["176670","Hutchinson-Gilford Progeria Syndrome; HGPS","y","15286156",226351,"LMNA","NM_170707.3:c.1626G>C",1,17,"Generalized lipodystrophy, Absent eyelashes, Early onset of sexual maturation, Diffuse skin atrophy, Dental crowding, Arthritis, Aplasia/Hypoplasia of the clavicles, Alopecia, Acroosteolysis of distal phalanges (feet), Absent eyebrow, Abnormality of skin pigmentation, Joint stiffness, Micrognathia, Osteolytic defects of the distal phalanges of the hand, Persistent open anterior fontanelle, Narrow nasal ridge, Proptosis",0]
["176670","Hutchinson-Gilford Progeria Syndrome; HGPS","y","15286156",226353,"LMNA","NM_170707.3:c.1626G>C",1,16,"Generalized lipodystrophy, Absent eyelashes, Diffuse skin atrophy, Dental crowding, Arthritis, Aplasia/Hypoplasia of the clavicles, Alopecia, Acroosteolysis of distal phalanges (feet), Absent eyebrow, Abnormality of skin pigmentation, Joint stiffness, Micrognathia, Osteolytic defects of the distal phalanges of the hand, Persistent open anterior fontanelle, Narrow nasal ridge, Proptosis",0]
["251260","Nijmegen Breakage Syndrome; NBS","y","15451479",247650,"NBN","NM_002485.4:c.1089C>A",1,11,"Global developmental delay, Failure to thrive, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive T cells, IgM deficiency, IgG deficiency, IgA deficiency, B lymphocytopenia, Lymphopenia, Bronchiolitis, Microcephaly",0]
["251260","Nijmegen Breakage Syndrome; NBS","y","15474156",247644,"NBN","NM_002485.4:c.698_701delAACA",2,19,"Delayed speech and language development, Growth delay, Smooth philtrum, Epicanthus, Depigmentation/hyperpigmentation of skin, Aggressive behavior, 4-5 toe syndactyly, 3-5 toe syndactyly, 3-4 toe syndactyly, 2-3 toe syndactyly, Joint laxity, Anteverted nares, Prominent fingertip pads, Recurrent abscess formation, Rhabdomyosarcoma, Delayed social development, Thin upper lip vermilion, Microcephaly, Telecanthus",0]
["182290","Smith-Magenis Syndrome; SMS","y","15788730",246208,"RAI1","NM_030665.3:c.3801delC",1,26,"Hyperactivity, Hoarse voice, Epicanthus, Brachydactyly, Motor delay, Broad palm, Broad face, Brachycephaly, Self-injurious behavior, Aggressive behavior, Intellectual disability, borderline, Mandibular prognathia, Myopia, Restlessness, Self-mutilation, Single transverse palmar crease, Sleep disturbance, Short palm, Head-banging, Self-biting, Stereotypical hand wringing, Square face, Strabismus, Synophrys, Tented upper lip vermilion, Midface retrusion",0]
["182290","Smith-Magenis Syndrome; SMS","y","15788730",246245,"RAI1","NM_030665.3:c.4685A>G",66,16,"Delayed speech and language development, Hoarse voice, Brachydactyly, Broad face, Brachycephaly, Self-injurious behavior, Intellectual disability, Seizures, Sleep disturbance, Head-banging, Self-biting, Stereotypical hand wringing, Microcephaly, Square face, Tented upper lip vermilion, Severe temper tantrums",0]
["182290","Smith-Magenis Syndrome; SMS","y","15788730",246168,"RAI1","NM_030665.3:c.253_271del",1,28,"Delayed speech and language development, Short finger, Short 5th finger, Hoarse voice, Enuresis, Brachydactyly, Motor delay, Impaired pain sensation, Clinodactyly of the 5th finger, Broad face, Brachycephaly, Self-injurious behavior, Intellectual disability, Mandibular prognathia, Myopia, Neonatal hypotonia, Obsessive-compulsive trait, Sleep disturbance, Waddling gait, Short palm, Skin-picking, Stereotypical hand wringing, Square face, Upslanted palpebral fissure, Tented upper lip vermilion, Midface retrusion, Abnormal temper tantrums, Recurrent ear infections",0]
["182290","Smith-Magenis Syndrome; SMS","y","15788730",246229,"RAI1","NM_030665.3:c.5423G>A",6,25,"Delayed speech and language development, Hoarse voice, Short stature, Dry skin, Brachydactyly, Delayed puberty, Motor delay, Broad face, Brachycephaly, Self-injurious behavior, Aggressive behavior, Abnormality iris morphology, Intellectual disability, borderline, Myopia, Pes planus, Sleep disturbance, Waddling gait, Mild global developmental delay, Skin-picking, Head-banging, Self-biting, Stereotypical hand wringing, Square face, Midface retrusion, Abnormal temper tantrums",0]
["176670","Hutchinson-Gilford Progeria Syndrome; HGPS","y","15793835",226401,"LMNA","NM_170707.3:c.1824C>T",1,32,"Shortening of all distal phalanges of the fingers, Postnatal growth retardation, Global developmental delay, Failure to thrive, Nail dystrophy, Dry skin, Diffuse skin atrophy, Delayed eruption of teeth, Limitation of joint mobility, Coxa valga, Alopecia of scalp, Alopecia, Acroosteolysis of distal phalanges (feet), Shortening of all distal phalanges of the toes, Abnormality of the temporomandibular joint, Large fontanelles, Micrognathia, Narrow chest, Narrow mouth, Narrow nose, Osteolytic defects of the distal phalanges of the hand, Progressive clavicular acroosteolysis, Thin skin, Prominent superficial veins, Prominent scalp veins, Short nail, Wormian bones, Widened distal phalanges, Sparse hair, Macular hyperpigmentation, Alopecia of scalp, Sparse scalp hair",0]
["304120, 311300","Otopalatodigital Syndrome","y","15940695",245443,"FLNA","NM_001110556.1:c.607G>T",1,10,"Hypertelorism, Depressed nasal bridge, Downslanted palpebral fissures, Brachydactyly, Median cleft palate, Misalignment of teeth, Narrow mouth, Prominent supraorbital ridges, Proptosis, Prominent forehead",0]
["117550, 614753","Sotos Syndrome","y","15942875",249803,"NSD1","NM_022455.4:c.5740C>T",1,1,"Specific learning disability",0]
["301900","Borjeson-Forssman-Lehmann Syndrome; BFLS","y","15994862",239518,"PHF6","NM_032335.3:c.27_28insA",1,12,"Delayed speech and language development, Hypothyroidism, Deeply set eye, Broad foot, Broad face, Increased thyroid-stimulating hormone level, Macrotia, Narrow forehead, Poor coordination, Large earlobe, Prominent supraorbital ridges, Macrocephaly",0]
["118450, 610205","Alagille Syndrome","y","16013021",224397,"JAG1","NM_000214.2:c.1880_1881insA",1,12,"Hyperuricemia, Hypertension, High pitched voice, Hepatic steatosis, Elevated hepatic transaminases, Low back pain, Renal insufficiency, Proteinuria, Pulmonary artery hypoplasia, Prominent forehead, Heart murmur, Narrow palpebral fissure",0]
["180850, 610543, 613684","Rubinstein-Taybi Syndrome","y","16021471",249591,"CREBBP","NM_004380.2:c.4321_4322insC",1,8,"Short stature, Cryptorchidism, Broad toe, Broad thumb, Abnormality of the thumb, Intellectual disability, mild, Keloids, Microcephaly",0]
["180850, 610543, 613684","Rubinstein-Taybi Syndrome","y","16021471",249600,"CREBBP","NM_004380.2:c.5933A>G",2,17,"Hirsutism, Highly arched eyebrow, High palate, Short stature, Brachydactyly, Nevus, Intellectual disability, mild, Large beaked nose, Low anterior hairline, Myopia, Recurrent otitis media, Pulmonic stenosis, Microcephaly, Strabismus, Thick eyebrow, Upslanted palpebral fissure, Synophrys",0]
["606593","Lig4 Syndrome","y","16088910",247307,"LIG4","NM_002312.3:c.2440C>T",1,28,"Delayed speech and language development, Hepatomegaly, Hepatic steatosis, Global developmental delay, Abnormality of bone marrow cell morphology, Epistaxis, Epicanthus, Prominent nose, Cryptorchidism, Clinodactyly of the 5th finger, Bruising susceptibility, Wide nasal bridge, Brachycephaly, Astigmatism, Asthma, Absent testis, Acute lymphoblastic leukemia, Low anterior hairline, Lymphadenopathy, Micropenis, Narrow forehead, Pericardial effusion, Pleural effusion, T-cell lymphoma/leukemia, T-cell acute lymphoblastic leukemias, Upslanted palpebral fissure, Cough, Pulmonary hemorrhage",1,"Developmental regression"]
["235730","Mowat-Wilson Syndrome; MOWS","y","16088920",247595,"ZEB2","NM_014795.3:c.1862delT",1,12,"Delayed speech and language development, Global developmental delay, Fine hair, Deeply set eye, Agenesis of corpus callosum, Motor delay, Aganglionic megacolon, Mandibular prognathia, Open mouth, Sparse hair, Strabismus, Uplifted earlobe",0]
["235730","Mowat-Wilson Syndrome; MOWS","y","16088920",247597,"ZEB2","NM_014795.3:c.1862delT",1,11,"Prominent nasal bridge, Deeply set eye, Agenesis of corpus callosum, Coloboma, Coarctation of aorta, Increased nuchal translucency, Intestinal obstruction, Mandibular prognathia, Short-segment aganglionic megacolon, Optic nerve aplasia, Uplifted earlobe",0]
["103470, 148820, 193500, 193510, 277580, 608890, 611584, 613265, 613266","Waardenburg Syndrome, Type 1; WS1","y","16160809",200400,"PAX3","NM_181457.3:c.64C>A, NM_181457.3:c.164T>A",1,6,"Hypopigmentation of the skin, Hypertelorism, Heterochromia iridis, Central heterochromia, Abnormality of skin pigmentation, Sensorineural hearing impairment",1,"Delayed speech and language development"]
["214800","Charge Syndrome","y","16400610",105140,"CHD7","NM_017780.3:c.3205C>T",1,6,"Hearing impairment, Facial palsy, External ear malformation, Abnormal cochlea morphology, Iris coloboma, Bilateral choanal atresia/stenosis",0]
["304110","Craniofrontonasal Syndrome; CFNS","y","16526919",224219,"EFNB1","NM_004429.4:c.685_686insG",1,9,"Hypertelorism, Craniofacial asymmetry, Broad nasal tip, Bifid nasal tip, Bilateral cleft lip and palate, Bilateral cleft lip, Thick hair, Strabismus, Clinodactyly",0]
["235730","Mowat-Wilson Syndrome; MOWS","y","16532472",247606,"ZEB2","NM_014795.3:c.1-70G>A",1,15,"Delayed speech and language development, Hypertelorism, Epicanthus, EEG abnormality, Constipation, Clinodactyly of the 5th finger, Broad eyebrow, Joint laxity, Low-set ears, Medial flaring of the eyebrow, Metatarsus adductus, Narrow mouth, Pointed chin, Large earlobe, Uplifted earlobe",0]
["304110","Craniofrontonasal Syndrome; CFNS","y","16685650",222696,"EFNB1","NM_004429.4:c.161C>T",1,3,"Hypertelorism, Deep philtrum, Abnormality of the philtrum",0]
["304110","Craniofrontonasal Syndrome; CFNS","y","16685650",222694,"EFNB1","NM_004429.4:c.161C>T",1,8,"Hypertelorism, Agenesis of corpus callosum, Deep philtrum, Coronal craniosynostosis, Cleft palate, Wide nose, Abnormality of the philtrum, Cleft lip",0]
["235730","Mowat-Wilson Syndrome; MOWS","y","16688751",247610,"ZEB2","NM_014795.3:c.3356A>G",1,27,"Delayed speech and language development, Hypoplasia of the corpus callosum, Shortening of all distal phalanges of the fingers, Hypertelorism, Hypermetropia, Global developmental delay, Generalized seizures, Depressed nasal bridge, EEG abnormality, Conductive hearing impairment, Motor delay, Cerebral cortical atrophy, Broad nasal tip, Broad hallux, Broad thumb, Wide nasal bridge, Bilateral cleft lip and palate, Astigmatism, Aganglionic megacolon, Absent speech, Intellectual disability, Pectus excavatum, Muscular hypotonia, Narrow mouth, Recurrent upper respiratory tract infections, Prominent nasal tip, Short-segment aganglionic megacolon",0]
["176670","Hutchinson-Gilford Progeria Syndrome; HGPS","y","16825282",226398,"LMNA","NM_170707.3:c.1583C>T, NM_170707.3:c.1619T>C",1,29,"Short distal phalanx of finger, Short stature, Postnatal growth retardation, Full cheeks, Failure to thrive, Deeply set eye, Enlarged joints, Dental crowding, Broad distal phalanx of finger, Alopecia of scalp, Alopecia, Large beaked nose, Lipodystrophy, Microretrognathia, Narrow mouth, Narrow nasal bridge, Osteolytic defects of the distal phalanges of the hand, Sparse eyelashes, Progressive clavicular acroosteolysis, Prominent superficial veins, Prominent scalp veins, Wormian bones, Sparse hair, Alopecia of scalp, Proptosis, Frontal bossing, Sparse scalp hair, Prominent forehead, Sparse eyebrow",0]
["182290","Smith-Magenis Syndrome; SMS","y","17041942",247655,"RAI1","NM_030665.3:c.3103delC",1,8,"Delayed speech and language development, Enuresis, Brachydactyly, Broad face, Self-injurious behavior, Inguinal hernia, Sleep disturbance, Midface retrusion",0]
["182290","Smith-Magenis Syndrome; SMS","y","17041942",247666,"RAI1","NM_030665.3:c.3634A>G",35,20,"Delayed speech and language development, High palate, Global developmental delay, Depressed nasal bridge, Epicanthus, Self-injurious behavior, Infantile muscular hypotonia, Joint laxity, Short attention span, Sleep disturbance, Recurrent infections, Recurrent upper respiratory tract infections, Head-banging, Microcephaly, Short philtrum, Upslanted palpebral fissure, Tented upper lip vermilion, Prominent forehead, Midface retrusion, Nevus sebaceus",0]
["218040","Costello Syndrome","y","17054105",249097,"HRAS","NM_005343.2:c.34G>A",1,37,"Coarse facial features, Broad forehead, Epicanthus, Strabismus, Depressed nasal bridge, Wide nasal bridge, Prominent nasal tip, Large earlobe, Uplifted earlobe, Low-set, posteriorly rotated ears, Full cheeks, Wide mouth, Thick vermilion border, Macroglossia, Intellectual disability, Arnold-Chiari type I malformation, Short neck, Barrel-shaped chest, Ulnar deviation of the hand or of fingers of the hand, Increased laxity of fingers, Widened distal phalanges, Limited interphalangeal movement, Hyperlordosis, Scoliosis, Deep palmar crease, Deep plantar creases, Hyperpigmentation of the skin, Nail dystrophy, Redundant skin, Hyperkeratosis, Curly hair, Sparse hair, Fine hair, Papilloma, Neoplasm, Cardiomyopathy, Hypertrophic cardiomyopathy",0]
["218040","Costello Syndrome","y","17054105",249090,"HRAS","NM_005343.2:c.34G>A",1,33,"Hypertrophic cardiomyopathy, Hydrocephalus, Hoarse voice, Broad forehead, Full cheeks, Depressed nasal bridge, Fine hair, Epicanthus, Limitation of joint mobility, Curly hair, Coarse facial features, Polyhydramnios, Bulbous nose, Wide nasal bridge, Barrel-shaped chest, Increased laxity of fingers, Intellectual disability, Kyphoscoliosis, Low-set, posteriorly rotated ears, Macroglossia, Neonatal respiratory distress, Obstructive sleep apnea, Large earlobe, Wide mouth, Short neck, Ulnar deviation of the hand or of fingers of the hand, Seizures, Prominent nasal tip, Widened distal phalanges, Sparse hair, Thick vermilion border, Uplifted earlobe, Papilloma",0]
["218040","Costello Syndrome","y","17054105",249092,"HRAS","NM_005343.2:c.34G>A",1,31,"Hyperpigmentation of the skin, Hoarse voice, Broad forehead, Full cheeks, Depressed nasal bridge, Fine hair, Epicanthus, Nail dystrophy, Deep plantar creases, Deep palmar crease, Limitation of joint mobility, Curly hair, Coarse facial features, Wide nasal bridge, Barrel-shaped chest, Increased laxity of fingers, Intellectual disability, Redundant skin, Low-set, posteriorly rotated ears, Macroglossia, Obstructive sleep apnea, Large earlobe, Wide mouth, Short neck, Ulnar deviation of the hand or of fingers of the hand, Prominent nasal tip, Widened distal phalanges, Sparse hair, Thick vermilion border, Uplifted earlobe, Papilloma",0]
["218040","Costello Syndrome","y","17054105",249102,"HRAS","NM_005343.2:c.34G>A",1,34,"Hypertrophic cardiomyopathy, Hyperpigmentation of the skin, Hyperlordosis, Hyperkeratosis, Broad forehead, Full cheeks, Depressed nasal bridge, Epicanthus, Nail dystrophy, Deep plantar creases, Deep palmar crease, Limitation of joint mobility, Curly hair, Coarse facial features, Wide nasal bridge, Barrel-shaped chest, Increased laxity of fingers, Intellectual disability, Redundant skin, Low-set, posteriorly rotated ears, Macroglossia, Nystagmus, Large earlobe, Wide mouth, Short neck, Ulnar deviation of the hand or of fingers of the hand, Prominent nasal tip, Wide tufts of distal phalanges, Sparse hair, Thick vermilion border, Strabismus, Uplifted earlobe, Papilloma, Left ventricular diastolic dysfunction",0]
["304110","Craniofrontonasal Syndrome; CFNS","y","17300690",224218,"EFNB1","NM_004429.4:c.353G>T",1,15,"Global developmental delay, Facial asymmetry, Esotropia, Cranial asymmetry, Coronal craniosynostosis, Broad nasal tip, Broad toe, Broad distal phalanx of the hallux, Brachycephaly, Abnormality of the palmar creases, Pectus carinatum, Ridged nail, Unicoronal synostosis, Strabismus, Frontal bossing",0]
["176670","Hutchinson-Gilford Progeria Syndrome; HGPS","y","17459035",226397,"LMNA","NM_170707.3:c.1824C>T",2,21,"Abnormality of the skin, Short stature, Failure to thrive, Absent eyelashes, Thickened skin, Alopecia, Absent eyebrow, Knee flexion contracture, Micrognathia, Multiple joint contractures, Persistent open anterior fontanelle, Thin vermilion border, Small earlobe, Protruding ear, Prominent superficial veins, Prominent scalp veins, Reduced subcutaneous adipose tissue, Proptosis, Frontal bossing, Stiff skin, Chin with vertical crease",0]
["176670","Hutchinson-Gilford Progeria Syndrome; HGPS","y","17459035",226395,"LMNA","NM_170707.3:c.1824C>T",1,26,"Short clavicles, Abnormality of the skin, Short stature, Fine hair, Failure to thrive, Thickened skin, Delayed closure of the anterior fontanelle, Alopecia, Micrognathia, Osteopenia, Multiple joint contractures, Narrow iliac wings, Osteolytic defects of the distal phalanges of the hand, Thin vermilion border, Small earlobe, Protruding ear, Sparse eyelashes, Prominent scalp veins, Wormian bones, Reduced subcutaneous adipose tissue, Sparse hair, Proptosis, Frontal bossing, Stiff skin, Chin with vertical crease, Sparse eyebrow",0]
["176670","Hutchinson-Gilford Progeria Syndrome; HGPS","y","17459035",226396,"LMNA","NM_170707.3:c.1824C>T",1,21,"Short stature, Global developmental delay, Failure to thrive, Absent eyelashes, Thickened skin, Alopecia, Absent eyebrow, Micrognathia, Multiple joint contractures, Osteolytic defects of the distal phalanges of the hand, Persistent open anterior fontanelle, Thin vermilion border, Small earlobe, Protruding ear, Prominent superficial veins, Prominent scalp veins, Reduced subcutaneous adipose tissue, Proptosis, Frontal bossing, Stiff skin, Chin with vertical crease",0]
["176670","Hutchinson-Gilford Progeria Syndrome; HGPS","y","17469202",226393,"LMNA","NM_170707.3:c.1821G>A",1,23,"Hepatomegaly, Hepatic calcification, Gastroparesis, Follicular hyperkeratosis, Ectropion, Dermal translucency, Abnormality of the temporomandibular joint, Abnormal lung morphology, Epidermal thickening, Intrauterine growth retardation, Tapered finger, Micrognathia, Narrow nose, Short nose, Open mouth, Pneumonia, Thin skin, Premature rupture of membranes, Vomiting, Tapered toe, Stiff skin, Cleft hard palate, Abnormal gastrointestinal motility",0]
["119600","Cleidocranial Dysplasia; CCD","y","17522365",212544,"RUNX2","NM_001024630.3:c.1182T>A",1,22,"Immunodeficiency, Short clavicles, Hypoplasia of the maxilla, Hypertelorism, Short distal phalanx of finger, High, narrow palate, Broad forehead, Short stature, Cognitive impairment, Depressed nasal bridge, Delayed pubic bone ossification, Delayed cranial suture closure, Coxa vara, Wide nose, Increased number of teeth, Mandibular prognathia, Short nose, Pes planus, Widely patent fontanelles and sutures, Flat face, Proptosis, Frontal bossing",0]
["252900, 252920, 252930, 253000, 253010, 253200, 253220, 309900, 601492, 607014, 607015, 607016","Mucopolysaccharidosis, Type II; MPS2","y","17616540",161703,"IDS","NM_000202.5:c.162delT",1,13,"Hepatosplenomegaly, Hearing impairment, Global developmental delay, Coarse facial features, Abnormality of the metacarpal bones, Abnormality of phalangeal joints of the hand, Intellectual disability, Joint stiffness, Limitation of knee mobility, Limited elbow movement, Limited hip movement, Limited shoulder movement, Seizures",0]
["252900, 252920, 252930, 253000, 253010, 253200, 253220, 309900, 601492, 607014, 607015, 607016","Mucopolysaccharidosis, Type II; MPS2","y","17616540",153474,"IDS","NM_000202.5:c.162delT",2,14,"Hepatosplenomegaly, Short stature, Hearing impairment, Global developmental delay, Coarse facial features, Bowel incontinence, Urinary incontinence, Absent speech, Abnormal epiphyseal ossification, Joint stiffness, Umbilical hernia, Thickened cortex of bones, Macrocephaly, Heart murmur",0]
["222448","Donnai-Barrow Syndrome","y","17632512, 8266995",239504,"LRP2","NM_004525.2:c.7564T>C",1,12,"Hypertelorism, Congenital diaphragmatic hernia, Broad nasal tip, Intestinal malrotation, Intestinal obstruction, Iris coloboma, Myopia, Short nose, Sensorineural hearing impairment, Omphalocele, Posteriorly rotated ears, Wide anterior fontanel",0]
["214800","Charge Syndrome","y","17661815",113028,"CHD7","NM_017780.3:c.2501C>T, NM_017780.3:c.2501C>T",1,10,"Short stature, Hearing impairment, Facial asymmetry, Posterior embryotoxon, Coloboma, Abnormality of the pinna, Mixed hearing impairment, Vestibular hypofunction, Postural instability, Proportionate short stature",0]
["214800","Charge Syndrome","y","17661815",113020,"CHD7","NM_017780.3:c.2501C>T",1,11,"Hypermetropia, Prominent nasal bridge, Posterior embryotoxon, Coloboma, Absence seizures, Abnormality of the pinna, Intellectual disability, Recurrent otitis media, Postural instability, Hypoplasia of the semicircular canal, Strabismus",0]
["305400","Aarskog Syndrome","y","17847065",240006,"FGD1","NM_004463.2:c.1396A>G",1,12,"Clinodactyly of the 5th finger, Bilateral cryptorchidism, Bilateral talipes equinovarus, Abnormality of the middle phalanges of the hand, Abnormality of digit, Inguinal hernia, Migraine, Pectus excavatum, Shawl scrotum, Sandal gap, Facial tics, Generalized tonic-clonic seizures without focal onset",0]
["214800","Charge Syndrome","y","18074359",107839,"CHD7","NM_017780.3:c.6322G>A",1,4,"Hearing impairment, Abnormality of the ear, Abnormality of earlobe, Hypoplasia of the semicircular canal",0]
["214800","Charge Syndrome","y","18074359",107819,"CHD7","NM_017780.3:c.2442+5G>C, NM_017780.3:c.2442+5G>C",2,8,"Hearing impairment, Bilateral cryptorchidism, Abnormality of the sense of smell, Abnormality of the ear, Intellectual disability, mild, Micropenis, Autistic behavior, Absent earlobe",0]
["214800","Charge Syndrome","y","18074359",107845,"CHD7","NM_017780.3:c.6322G>A",1,2,"Optic nerve coloboma, Vesicoureteral reflux",0]
["214800","Charge Syndrome","y","18074359",107857,"CHD7","NM_017780.3:c.6322G>A",2,8,"Bilateral sensorineural hearing impairment, Optic nerve coloboma, Bifid uvula, Abnormality of the ear, Microphthalmia, Vesicoureteral reflux, Single transverse palmar crease, Hypoplasia of the semicircular canal",0]
["270400","Smith-Lemli-Opitz Syndrome; SLOS","y","18249054",207536,"DHCR7","NM_001360.2:c.151C>T, NM_001360.2:c.1337G>A",1,30,"High forehead, Prominent occiput, Fair hair, Failure to thrive, Epicanthus, Dental crowding, Broad nasal tip, Wide nose, Wide nasal bridge, Broad alveolar ridges, Aggressive behavior, Abnormality of the male genitalia, Abnormality of the alveolar ridges, 2-3 toe syndactyly, Intellectual disability, Large fleshy ears, Metatarsus adductus, Micrognathia, Anteverted nares, Narrow forehead, Short nose, Large earlobe, Short neck, Prominent metopic ridge, Redundant neck skin, Microcephaly, Strabismus, Ptosis, Proptosis, Feeding difficulties",0]
["270400","Smith-Lemli-Opitz Syndrome; SLOS","y","18249054",207545,"DHCR7","NM_001360.2:c.151C>T, NM_001360.2:c.1337G>A",1,28,"High forehead, Prominent occiput, Fair hair, Failure to thrive, Epicanthus, Dental crowding, 2-3 toe cutaneous syndactyly, Broad nasal tip, Wide nasal bridge, Broad alveolar ridges, Aggressive behavior, Intellectual disability, Large fleshy ears, Low-set ears, Low-set, posteriorly rotated ears, Metatarsus adductus, Micrognathia, Anteverted nares, Narrow forehead, Short nose, Large earlobe, Short neck, Prominent metopic ridge, Redundant neck skin, Microcephaly, Ptosis, Proptosis, Feeding difficulties",0]
["270400","Smith-Lemli-Opitz Syndrome; SLOS","y","18249054",207554,"DHCR7","NM_001360.2:c.461C>T, NM_001360.2:c.655T>G, NM_001360.2:c.655T>C",1,28,"High forehead, Prominent occiput, Fair hair, Epicanthus, Dental crowding, 2-3 toe cutaneous syndactyly, Cleft palate, Broad nasal tip, Wide nasal bridge, Broad alveolar ridges, Aggressive behavior, Morphological abnormality of the central nervous system, Intellectual disability, Micropenis, Anteverted nares, Narrow forehead, Short nose, Penile hypospadias, Short neck, Prominent metopic ridge, Redundant neck skin, Pes valgus, Microcephaly, Strabismus, Ptosis, Proptosis, Small scrotum, Feeding difficulties",0]
["270400","Smith-Lemli-Opitz Syndrome; SLOS","y","18249054",207553,"DHCR7","NM_001360.2:c.452G>A, NM_001360.2:c.925G>A",1,21,"Short 3rd finger, High forehead, Prominent occiput, Fair hair, Failure to thrive, Dental crowding, 2-3 toe cutaneous syndactyly, Broad alveolar ridges, Intellectual disability, Large fleshy ears, Micrognathia, Anteverted nares, Narrow forehead, Large earlobe, Prominent metopic ridge, Pes valgus, Ulnar deviation of the hand, Microcephaly, Ptosis, Proptosis, Feeding difficulties",1,"Behavioral abnormality"]
["222448","Donnai-Barrow Syndrome","y","18553518",249118,"LRP2","NM_004525.2:c.11469_11472delTTTG",1,17,"Hypertelorism, Frontal encephalocele, Encephalocele, Agenesis of corpus callosum, Chorioretinal coloboma, Coloboma, Bilateral sensorineural hearing impairment, Bilateral retinal coloboma, Arnold-Chiari type I malformation, Inguinal hernia, Intestinal malrotation, Myopia, Omphalocele, High myopia, Posterior lenticonus, Posterior staphyloma, Central diaphragmatic hernia",0]
["154500, 248390, 613717","Treacher Collins Syndrome","y","19050407, 8322816",244216,"TCOF1","NM_000356.3:c.4134delA",1,15,"Hypoplastic male external genitalia, High anterior hairline, Downslanted palpebral fissures, Prominent nose, Lower eyelid coloboma, Abnormality of the pinna, Abnormality of the nares, Abnormality of the metopic suture, Iris coloboma, Micropenis, Microphthalmia, Upper eyelid coloboma, Triangular face, Frontal bossing, Abnormal location of the eyebrow",0]
["113620","Branchiooculofacial Syndrome; BOFS","y","19206157",240762,"TFAP2A","NM_003220.2:c.826_842delCTGCCTGCAGGGAGACGinsAGGAT",4,15,"Incomplete cleft of the upper lip, Delayed speech and language development, Dolichocephaly, Cochlear malformation, Wide nasal bridge, Bilateral sensorineural hearing impairment, Abnormality of the philtrum, Abnormal cochlea morphology, Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Supernumerary nipple, Morphological abnormality of the vestibule of the inner ear, Enlarged vestibular aqueduct, Profound sensorineural hearing impairment, Upslanted palpebral fissure",0]
["606593","Lig4 Syndrome","y","19418549",247317,"LIG4","NM_002312.3:c.1762delAAG",1,7,"Prominent nasal bridge, Abnormality of bone marrow cell morphology, Epicanthus, Low anterior hairline, Pancytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections",0]
["176670","Hutchinson-Gilford Progeria Syndrome; HGPS","y","19432833",226389,"LMNA","NM_170707.3:c.1579C>T",3,10,"Short clavicles, Hyperpigmentation of the skin, Nail dystrophy, Diarrhea, Delayed skeletal maturation, Decreased finger mobility, Constipation, Pruritus, Scoliosis, Sparse hair",0]
["117550, 614753","Sotos Syndrome","y","19545651",208693,"NSD1","NM_022455.4:c.6523T>A, NM_022455.4:c.7636G>A",1,14,"Coarse facial features, Asthma, Allergic rhinitis, Tall stature, Long foot, Large hands, Lipedema, Mandibular prognathia, Pointed chin, Sparse hair, Type I diabetes mellitus, Macrocephaly, Triangular face, Sparse scalp hair",0]
["117550, 614753","Sotos Syndrome","y","19545651",208691,"NSD1","NM_022455.4:c.6523T>A, NM_022455.4:c.7636G>A",3,22,"High palate, High anterior hairline, Expressive language delay, Diastasis recti, Delayed gross motor development, Delayed fine motor development, Motor delay, Coarse facial features, Atrial septal defect, Allergic rhinitis, Tall stature, Long foot, Large hands, Mandibular prognathia, Pectus excavatum, Muscular hypotonia, Myopia, Prolonged neonatal jaundice, Poor gross motor coordination, Poor fine motor coordination, Proportionate tall stature, Macrocephaly",0]
["117550, 614753","Sotos Syndrome","y","19545651",208692,"NSD1","NM_022455.4:c.6523T>A, NM_022455.4:c.7636G>A",1,14,"Hypertelorism, High palate, High anterior hairline, Hemangioma, Facial hemangioma, Motor delay, Atrial septal defect, Tall stature, Long foot, Mandibular prognathia, Neonatal respiratory distress, Pointed chin, Macrocephaly, Prominent forehead",0]
["164200, 257850","Oculodentodigital Dysplasia","y","19638688",245390,"GJA1","NM_000165.3:c.31C>T",1,27,"Underdeveloped nasal alae, Hyperactivity, Global developmental delay, Depressed nasal bridge, Esotropia, Epicanthus, Microcornea, Cutaneous finger syndactyly, Contracture of the proximal interphalangeal joint of the 5th finger, Contracture of the proximal interphalangeal joint of the 4th finger, Attention deficit hyperactivity disorder, Long philtrum, Microdontia, Micrognathia, Muscular hypotonia, Narrow naris, Narrow nose, Optic disc pallor, Sparse eyelashes, Syndactyly, High myopia, Dry hair, Camptodactyly, Camptodactyly of finger, Narrow palpebral fissure, Short palpebral fissure, Sparse eyebrow",0]
["236730, 615112","Urofacial Syndrome 1; UFS","y","19669792",251118,"HPSE2","NM_021828.4:c.457C>T",1,6,"Functional abnormality of the bladder, Dilatation of the renal pelvis, Neurogenic bladder, Recurrent urinary tract infections, Abnormality of muscle of facial expression, Abnormality of bladder morphology",0]
["236730, 615112","Urofacial Syndrome 1; UFS","y","19669792",251121,"HPSE2","NM_021828.4:c.457C>T",1,7,"Functional abnormality of the bladder, Dilatation of the renal pelvis, Disturbance of facial expression, Neurogenic bladder, Recurrent urinary tract infections, Abnormality of muscle of facial expression, Abnormality of bladder morphology",0]
["122470, 300590, 300882, 610759, 614701","Cornelia De Lange Syndrome","y","19701948",114186,"SMC1A","NM_006306.3:c.1193G>A",1,7,"Highly arched eyebrow, Downturned corners of mouth, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Anteverted nares, Short nose",0]
["305600","Focal Dermal Hypoplasia; FDH","y","19863546",251153,"PORCN","NM_203475.1:c.992T>G",1,13,"Focal dermal aplasia/hypoplasia, Ectrodactyly, Aplasia of the phalanges of the toes, Abnormality of dental structure, Iris coloboma, Microphthalmia, Hemihypotrophy of lower limb, Omphalocele, Retinal coloboma, Mild global developmental delay, Toenail dysplasia, Facial papilloma, Abnormality of bony orbit of skull",0]
["607014","Hurler Syndrome","y","20026495, 26965916",245797,"IDUA","NM_000203.3:c.1205G>A, NM_000203.3:c.1603C>T",1,1,"Urinary glycosaminoglycan excretion",0]
["607014","Hurler Syndrome","y","20026495, 26965916",245728,"IDUA","NM_000203.3:c.1205G>A, NM_000203.3:c.1603C>T",1,1,"Urinary glycosaminoglycan excretion",0]
["218400","Craniometaphyseal Dysplasia","y","20186813",243761,"ANKH","NM_054027.4:c.868T>C, NM_054027.4:c.870C>G, NM_054027.4:c.874_885delTGGTTGACGGAA",1,5,"Craniofacial hyperostosis, Wide nasal bridge, Abnormality of the tibial metaphysis, Short nose, Prominence of the zygomatic bone",0]
["210600, 606744, 613676, 613823, 614851, 615807","Seckel Syndrome","y","20522431",222183,"CENPJ","NM_018451.4:c.3302-1G>C",1,10,"Underdeveloped nasal alae, High forehead, Prominent nasal bridge, Short stature, Cognitive impairment, Global developmental delay, Motor delay, Low-set ears, Microretrognathia, Microcephaly",0]
["210600, 606744, 613676, 613823, 614851, 615807","Seckel Syndrome","y","20522431",222181,"CENPJ","NM_018451.4:c.3302-1G>C",1,8,"Underdeveloped nasal alae, High forehead, Prominent nasal bridge, Short stature, Intellectual disability, Low-set ears, Retrognathia, Microcephaly",0]
["210600, 606744, 613676, 613823, 614851, 615807","Seckel Syndrome","y","20522431",222178,"CENPJ","NM_018451.4:c.3302-1G>C",1,8,"Underdeveloped nasal alae, High forehead, Prominent nasal bridge, Global developmental delay, Failure to thrive, Intrauterine growth retardation, Low-set ears, Retrognathia",0]
["615981","Bardet-Biedl Syndrome 2; BBS2","y","20618352",155152,"BBS2","NM_031885.3:c.472-2A>G",1,18,"Visual impairment, Hypospadias, Smooth philtrum, Deeply set eye, Downslanted palpebral fissures, Cutaneous syndactyly of toes, Bulbous nose, Bilateral postaxial polydactyly, Myopia, Nyctalopia, Obesity, Polydipsia, Polyuria, Chronic kidney disease, Renal cyst, Thin vermilion border, Round face, Short palpebral fissure",0]
["182290","Smith-Magenis Syndrome; SMS","y","20932317",247645,"RAI1","NM_030665.3:c.3103delC",2,23,"Delayed speech and language development, Hoarse voice, Short stature, Hearing impairment, Downturned corners of mouth, Brachydactyly, Clinodactyly of the 5th finger, Broad face, Brachycephaly, Self-injurious behavior, Anxiety, Myopia, Obsessive-compulsive behavior, Pes planus, Seizures, Sleep disturbance, Scoliosis, Mild global developmental delay, Head-banging, Square face, Strabismus, Upslanted palpebral fissure, Tented upper lip vermilion",0]
["248340, 257920, 265050","3MC Syndrome","y","21035106",239745,"MASP1","NM_139125.3:c.2059G>A",1,16,"Hypertelorism, Highly arched eyebrow, High hypermetropia, Prominent nasal bridge, Global developmental delay, Epicanthus inversus, Downslanted palpebral fissures, Caudal appendage, Bifid nasal tip, Wide nasal bridge, Abnormality of the umbilicus, Mixed hearing impairment, Ptosis, Morphological abnormality of the lateral semicircular canal, Morphological abnormality of the anterior semicircular canal, Upgaze palsy",0]
["248340, 257920, 265050","3MC Syndrome 1; 3MC1","y","21035106",239754,"MASP1","NM_139125.3:c.870G>A",1,20,"Highly arched eyebrow, Global developmental delay, Epicanthus inversus, Ectropion of lower eyelids, Crossed fused renal ectopia, Downturned corners of mouth, Downslanted palpebral fissures, Clinodactyly of the 5th finger, Caudal appendage, Bifid nasal tip, Abnormality of the umbilicus, Abnormality of the kidney, 2-3 toe syndactyly, Tapered finger, Patent ductus arteriosus, Shortening of all phalanges of fingers, Telecanthus, Ptosis, Synophrys, Upgaze palsy",0]
["122860","Craniodiaphyseal Dysplasia; CDD","y","21221996",243746,"SOST","NM_025237.2:c.61G>A",1,16,"Hypertelorism, Facial hyperostosis, Short stature, Elevated circulating parathyroid hormone level, Elevated alkaline phosphatase, Craniofacial osteosclerosis, Polyhydramnios, Choanal atresia, Wide nasal bridge, Abnormal diaphysis morphology, Increased intracranial pressure, Progressive macrocephaly, Papilledema, Respiratory distress, Concave nasal ridge, Increased size of the mandible",0]
["300624","Fragile X Mental Retardation Syndrome","y","21267007",249852,"FMR1","NM_002024.5:c.80C>A",1,16,"Delayed speech and language development, High forehead, Broad forehead, Generalized tonic-clonic seizures, Generalized myoclonic seizures, Generalized hypotonia, Expressive language delay, Motor delay, Intellectual disability, Joint hypermobility, Macrotia, Long face, Low-set ears, Macroorchidism, Mandibular prognathia, Seizures",0]
["224690, 613800, 613803, 613804, 613805","Meier-Gorlin Syndrome 1; MGORS1","y","21358633",249181,"ORC1","NM_004153.3:c.314G>A",1,7,"Short stature, Growth delay, Macrotia, Specific learning disability, Thick vermilion border, Microcephaly, Short philtrum",0]
["224690, 613800, 613803, 613804, 613805","Meier-Gorlin Syndrome 1; MGORS1","y","21358633",249178,"ORC1","NM_004153.3:c.380A>G",2,8,"Ichthyosis, Growth delay, Growth hormone deficiency, Microtia, Pointed chin, Thick vermilion border, Microcephaly, Short chin",0]
["102500","Hajdu-Cheney Syndrome; HJCYS","y","21378985",247921,"NOTCH2","NM_024408.3:c.6272delT",1,4,"Coarse facial features, Clubbing, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges of the hand",0]
["102500","Hajdu-Cheney Syndrome; HJCYS","y","21378989",247946,"NOTCH2","NM_024408.3:c.6853C>T",1,15,"Hypertelorism, Short stature, Polycystic kidney dysplasia, Acroosteolysis of distal phalanges (feet), Iris coloboma, Joint hypermobility, Long philtrum, Low-set, posteriorly rotated ears, Micrognathia, Microretrognathia, Osteolytic defects of the phalanges of the hand, Osteoporosis, Patent ductus arteriosus, Wormian bones, Thick eyebrow",0]
["304110","Craniofrontonasal Syndrome; CFNS","y","21385071",224217,"EFNB1","NM_004429.4:c.373G>A",1,10,"Hypertelorism, Global developmental delay, Flat forehead, Exotropia, Astigmatism, Amblyopia, Unicoronal synostosis, Right unicoronal synostosis, Deviated nasal tip, Anisometropia",0]
["268400","Rothmund-Thomson Syndrome; RTS","y","21418107",201868,"RECQL4","NM_004260.3:c.1650_1656delGGCCTGC, NM_004260.3:c.2269C>T",1,11,"Short stature, Gait disturbance, Dry skin, Absent thumb, Abnormality of the acetabulum, Abnormality of skin pigmentation, Abnormality of primary teeth, Osteosarcoma, Cutaneous photosensitivity, Poikiloderma, Femoral aplasia",0]
["236730, 615112","Urofacial Syndrome 1; UFS","y","21450525",249851,"HPSE2","NM_021828.4:c.1374_1378delTGTGC",1,10,"Hydroureter, Enlarged kidney, Dilatation of the renal pelvis, Constipation, Orthostatic hypotension, Recurrent urinary tract infections, Vesicoureteral reflux, Rectal prolapse, Chronic constipation, Recurrent pyelonephritis",0]
["252900, 252920, 252930, 253000, 253010, 253200, 253220, 309900, 601492, 607014, 607015, 607016","Mucopolysaccharidoses","y","21672014",153471,"IDS","NM_000202.5:c.1568A>G",1,1,"Shoulder flexion contracture",0]
["252900, 252920, 252930, 253000, 253010, 253200, 253220, 309900, 601492, 607014, 607015, 607016","Mucopolysaccharidosis, Type II; MPS2","y","21672014",161702,"IDS","NM_000202.5:c.1568A>G",1,12,"Hyperactivity, Hepatomegaly, Short stature, Global developmental delay, Coarse facial features, Abnormal heart valve morphology, Joint stiffness, Left ventricular hypertrophy, Umbilical hernia, Scoliosis, Macrocephaly, Prominent forehead",0]
["102500","Hajdu-Cheney Syndrome; HJCYS","y","21681853",247952,"NOTCH2","NM_024408.3:c.7078C>T",1,5,"Hypertelorism, Depressed nasal bridge, Downslanted palpebral fissures, Cupped ear, Long philtrum",0]
["270400","Smith-Lemli-Opitz Syndrome; SLOS","y","21696385",207533,"DHCR7","NM_001360.2:c.1055G>A",1,18,"Hypospadias, Hypocholesterolemia, Hypertelorism, Growth delay, Global developmental delay, Generalized hypotonia, Epicanthus, Wide nasal bridge, Bilateral cryptorchidism, 2-3 toe syndactyly, Low-set ears, Micrognathia, Anteverted nares, Enlarged naris, Scrotal hypoplasia, Microcephaly, Ptosis, Profound global developmental delay",0]
["605039","Bohring-Opitz Syndrome; BOPS","y","21706002",213314,"ASXL1","NM_015338.5:c.3083C>A",1,21,"Hypertrichosis, Facial hemangioma, Ankle contracture, Broad alveolar ridges, Apnea, Abnormal heart morphology, Intellectual disability, profound, Intellectual disability, severe, Intrauterine growth retardation, Joint dislocation, Low anterior hairline, Low-set, posteriorly rotated ears, Microretrognathia, Myopia, Trigonocephaly, Syndactyly, Recurrent infections, Abnormality of brain morphology, Microcephaly, Proptosis, Feeding difficulties",0]
["605039","Bohring-Opitz Syndrome; BOPS","y","21706002",213322,"ASXL1","NM_015338.5:c.2332C>T",1,21,"Hypertrichosis, Hypertelorism, Feeding difficulties in infancy, Facial hemangioma, Flexion contracture, Bilateral cleft palate, Abnormal anterior chamber morphology, Inguinal hernia, Joint dislocation, Low anterior hairline, Muscular hypotonia, Myopia, Trigonocephaly, Seizures, Umbilical hernia, Abnormality of brain morphology, Microcephaly, Strabismus, Proptosis, Upslanted palpebral fissure, Feeding difficulties",0]
["605039","Bohring-Opitz Syndrome; BOPS","y","21706002",213308,"ASXL1","NM_015338.5:c.1210C>T",1,30,"Hypertrichosis, Fixed elbow flexion, Facial hemangioma, Epicanthus, Deep palmar crease, Flexion contracture, Broad alveolar ridges, Intellectual disability, profound, Intellectual disability, severe, Intrauterine growth retardation, Low anterior hairline, Micrognathia, Muscular hypotonia, Myopia, Nevus flammeus of the forehead, Trigonocephaly, Retrognathia, Sacral dimple, Seizures, Recurrent infections, Ulnar deviation of the wrist, Prominent metopic ridge, Ulnar deviation of the hand, Abnormality of brain morphology, Microcephaly, Strabismus, Proptosis, Upslanted palpebral fissure, Tented upper lip vermilion, Feeding difficulties",0]
["605039","Bohring-Opitz Syndrome; BOPS","y","21706002",213317,"ASXL1","NM_015338.5:c.2535dup",1,29,"Hypertrichosis, Hypertelorism, Depressed nasal bridge, Facial hemangioma, Cutis laxa, Flexion contracture, Wide nasal bridge, Broad alveolar ridges, Accessory oral frenulum, Abnormal retinal morphology, Abnormality of the optic nerve, Abnormal heart morphology, Intellectual disability, profound, Intellectual disability, severe, Intrauterine growth retardation, Joint dislocation, Redundant skin, Low-set, posteriorly rotated ears, Microretrognathia, Muscular hypotonia, Myopia, Anteverted nares, Narrow mouth, Trigonocephaly, Syndactyly, Abnormality of brain morphology, Microcephaly, Proptosis, Feeding difficulties",0]
["605039","Bohring-Opitz Syndrome; BOPS","y","21706002",213319,"ASXL1","NM_015338.5:c.2468T>G",1,25,"Depressed nasal bridge, Facial hemangioma, Deep palmar crease, Flexion contracture, Wide nasal bridge, Broad alveolar ridges, Apnea, Abnormal retinal morphology, Abnormality of the optic nerve, Intrauterine growth retardation, Joint dislocation, Low-set, posteriorly rotated ears, Microretrognathia, Muscular hypotonia, Myopia, Anteverted nares, Neonatal respiratory distress, Trigonocephaly, Syndactyly, Seizures, Recurrent infections, Microcephaly, Strabismus, Proptosis, Feeding difficulties",0]
["102500","Hajdu-Cheney Syndrome; HJCYS","y","21712856",247955,"NOTCH2","NM_024408.3:c.6895G>T",1,35,"Underdeveloped supraorbital ridges, Hypoplasia of the radius, Hypertelorism, Short distal phalanx of finger, Short humerus, Highly arched eyebrow, Short stature, Full cheeks, Frontal hirsutism, Femoral bowing, Epicanthus, Dental malocclusion, Wide nose, Bowed humerus, Bilateral sensorineural hearing impairment, Atrial septal defect, Abnormality of the radius, Abnormality of the palpebral fissures, Abnormality of the metacarpal bones, Interstitial pulmonary abnormality, Intestinal malrotation, Low posterior hairline, Low-set, posteriorly rotated ears, Micrognathia, Narrow mouth, Narrow nasal bridge, Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Patent ductus arteriosus, Splenomegaly, Recurrent respiratory infections, Mild global developmental delay, Ptosis, Serpentine fibula, Hyperplasia of the maxilla",0]
["102500","Hajdu-Cheney Syndrome; HJCYS","y","21712856",247959,"NOTCH2","NM_024408.3:c.7165C>T",1,19,"Hypothyroidism, Smooth philtrum, Polycystic kidney dysplasia, Downturned corners of mouth, Cranial asymmetry, Broad nasal tip, Bilateral sensorineural hearing impairment, Acroosteolysis of distal phalanges (feet), Abnormal vertebral morphology, Abnormality of the pinna, Long philtrum, Osteolytic defects of the phalanges of the hand, Patent ductus arteriosus, Posteriorly rotated ears, Ventricular septal defect, Wormian bones, Basilar invagination, Thin upper lip vermilion, Serpentine fibula",0]
["182290","Smith-Magenis Syndrome; SMS","y","21857958",249110,"RAI1","NM_030665.3:c.1449delC",1,26,"Hypogonadotrophic hypogonadism, Hoarse voice, High palate, Broad forehead, Gynecomastia, Gait ataxia, Depressed nasal bridge, Dilation of lateral ventricles, Malar flattening, Delayed gross motor development, Delayed fine motor development, Cupped ear, Abnormal facial shape, Self-injurious behavior, Aggressive behavior, Infantile muscular hypotonia, Intellectual disability, mild, Mandibular prognathia, Sensorineural hearing impairment, Obesity, Thoracolumbar scoliosis, Spina bifida occulta, Telecanthus, Synophrys, Frontal bossing, Tented upper lip vermilion",0]
["182290","Smith-Magenis Syndrome; SMS","y","21857958",249179,"RAI1","NM_030665.3:c.3103dupC",1,19,"Global developmental delay, Generalized hypotonia, Self-injurious behavior, Autism, Aggressive behavior, Abnormality of the dentition, Intellectual disability, mild, Kyphoscoliosis, Mood swings, Muscular hypotonia of the trunk, Myopia, Obstructive sleep apnea, Pes planus, Sleep disturbance, Scoliosis, Severe sensorineural hearing impairment, Strabismus, Abnormal temper tantrums, Exophoria",0]
["182290","Smith-Magenis Syndrome; SMS","y","21857958",249155,"RAI1","NM_030665.3:c.1973G>A",1,24,"Hypermetropia, Global developmental delay, Gastroesophageal reflux, Febrile seizures, Episodic abdominal pain, Conductive hearing impairment, Bifid uvula, Self-injurious behavior, Anxiety, Absence seizures, Abnormal aggressive, impulsive or violent behavior, Intellectual disability, mild, Lower limb asymmetry, Metatarsus adductus, Obesity, Obsessive-compulsive behavior, Obstructive sleep apnea, Pes planus, Recurrent urinary tract infections, Recurrent otitis media, Sleep disturbance, Thoracolumbar scoliosis, Central hypotonia, Small hand",0]
["119600","Cleidocranial Dysplasia; CCD","y","22194205",212499,"RUNX2","NM_001015051.3:c.549delC",1,19,"Short clavicles, Hypoplasia of the maxilla, Hypertelorism, Broad forehead, Depressed nasal bridge, Failure of eruption of permanent teeth, Dental malocclusion, Delayed closure of the anterior fontanelle, Abnormality of the dentition, Abnormality of the mandible, Increased number of teeth, Mandibular prognathia, Narrow chest, Persistence of primary teeth, Wide cranial sutures, Flat face, Down-sloping shoulders, Frontal bossing, Irregular dentition",0]
["136140","Floating-Harbor Syndrome; FLHS","y","22265015",249141,"SRCAP","NM_006662.2:c.7303C>T",1,19,"Hypermetropia, Expressive language delay, Conductive hearing impairment, Brachydactyly, Cryptorchidism, Low hanging columella, Carious teeth, Broad thumb, Broad fingertip, Abnormality of the nose, Intellectual disability, borderline, Low-set ears, Marked delay in bone age, Microdontia, Wide mouth, Thin upper lip vermilion, Short philtrum, Triangular face, Clinodactyly",0]
["136140","Floating-Harbor Syndrome; FLHS","y","22265015",249157,"SRCAP","NM_006662.2:c.7303C>T",1,11,"Ivory epiphyses of the distal phalanges of the hand, Congenital posterior urethral valve, Low hanging columella, Abnormality of the nose, 11 pairs of ribs, Intellectual disability, severe, Marked delay in bone age, Wide mouth, Umbilical hernia, Severe expressive language delay, Triangular face",0]
["136140","Floating-Harbor Syndrome; FLHS","y","22265015",249147,"SRCAP","NM_006662.2:c.7330C>T",1,16,"Expressive language delay, Brachydactyly, Constipation, Low hanging columella, Carious teeth, Abnormality of the nose, Intellectual disability, mild, Kyphoscoliosis, Low-set ears, Marked delay in bone age, Persistence of primary teeth, Wide mouth, Thin upper lip vermilion, Short philtrum, Triangular face, Clinodactyly",0]
["136140","Floating-Harbor Syndrome; FLHS","y","22265015",249131,"SRCAP","NM_006662.2:c.7330C>T",1,11,"Hypospadias, Expressive language delay, Low hanging columella, Celiac disease, Abnormality of the nose, Intellectual disability, borderline, Low-set ears, Wide mouth, Thin upper lip vermilion, Short philtrum, Triangular face",0]
["136140","Floating-Harbor Syndrome; FLHS","y","22265015",249162,"SRCAP","NM_006662.2:c.7303C>T",1,14,"Short middle phalanx of finger, Expressive language delay, Brachydactyly, Low hanging columella, Broad thumb, Broad fingertip, Abnormality of the nose, Intellectual disability, Marked delay in bone age, Wide mouth, Short philtrum, Triangular face, Strabismus, Clinodactyly",0]
["136140","Floating-Harbor Syndrome; FLHS","y","22265015",249136,"SRCAP","NM_006662.2:c.7330C>T",1,15,"Hydronephrosis, Expressive language delay, Brachydactyly, Low hanging columella, Broad thumb, Broad fingertip, Abnormality of the nose, Intellectual disability, Low-set ears, Marked delay in bone age, Nephrocalcinosis, Recurrent otitis media, Thin upper lip vermilion, Short philtrum, Triangular face",0]
["136140","Floating-Harbor Syndrome; FLHS","y","22265015",249152,"SRCAP","NM_006662.2:c.7303C>T",1,17,"Hip dysplasia, Hearing impairment, Expressive language delay, Cryptorchidism, Low hanging columella, Broad fingertip, Abnormality of the nose, Inguinal hernia, Specific learning disability, Low-set ears, Marked delay in bone age, Wide mouth, Velopharyngeal insufficiency, Thin upper lip vermilion, Short philtrum, Triangular face, Clinodactyly",0]
["224690, 613800, 613803, 613804, 613805","Meier-Gorlin Syndrome","y","22333897",248455,"ORC1","NM_004153.3:c.314G>A",1,5,"Short stature, Microtia, Patellar hypoplasia, Thick vermilion border, Microcephaly",0]
["601358","Nicolaides-Baraitser Syndrome; NCBRS","y","22366787",213194,"SMARCA2","NM_003070.3:c.2561A>G",1,4,"Abnormality of upper lip vermillion, Intellectual disability, Wide mouth, Sparse hair",0]
["601358","Nicolaides-Baraitser Syndrome; NCBRS","y","22366787",213195,"SMARCA2","NM_003070.3:c.3404T>C",1,5,"Intellectual disability, Anteverted nares, Wide mouth, Sparse hair, Sparse scalp hair",0]
["601358","Nicolaides-Baraitser Syndrome; NCBRS","y","22366787",213202,"SMARCA2","NM_003070.3:c.3476G>A",1,4,"Coarse facial features, Intellectual disability, Wide mouth, Sparse hair",0]
["601358","Nicolaides-Baraitser Syndrome; NCBRS","y","22366787",213192,"SMARCA2","NM_003070.3:c.2642G>T",1,6,"Coarse facial features, Intellectual disability, Wide mouth, Prominent interphalangeal joints, Sparse hair, Sparse scalp hair",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y","22405089",121642,"ARID1B","NM_020732.3:c.3919C>T",1,17,"Delayed speech and language development, Expressive language delay, Downslanted palpebral fissures, Brachydactyly, Motor delay, Conical tooth, Aggressive behavior, Abnormality of the pinna, Low-set, posteriorly rotated ears, Muscular hypotonia, Autistic behavior, Recurrent infections, Severe global developmental delay, Allergy, Small, conical teeth, Thin upper lip vermilion, Prominent forehead",0]
["154500, 248390, 613717","Treacher Collins Syndrome","y","22729243",246247,"TCOF1","NM_000356.3:c.790_791delAG",1,9,"Hypoplasia of the zygomatic bone, Atresia of the external auditory canal, Conductive hearing impairment, Downslanted palpebral fissures, Lower eyelid coloboma, Aplasia/Hypoplasia of the mandible, Maxillozygomatic hypoplasia, Micrognathia, Microtia",0]
["154500, 248390, 613717","Treacher Collins Syndrome","y","22729243",246253,"TCOF1","NM_000356.3:c.790_791delAG",1,10,"Delayed speech and language development, Hypoplasia of the zygomatic bone, Atresia of the external auditory canal, Downslanted palpebral fissures, Congenital conductive hearing impairment, Cleft palate, Maxillozygomatic hypoplasia, Micrognathia, Microtia, Bilateral choanal atresia/stenosis",0]
["601358","Nicolaides-Baraitser Syndrome; NCBRS","y","22822383",213222,"SMARCA2","NM_003070.3:c.3563C>A",1,33,"Delayed speech and language development, Hypertrichosis, High, narrow palate, Short stature, Global developmental delay, Feeding difficulties in infancy, Downslanted palpebral fissures, Motor delay, Abnormal facial shape, Constipation, Autism, Aggressive behavior, Inflexible adherence to routines or rituals, Long fingers, Long philtrum, Long toe, Low anterior hairline, Low posterior hairline, Macrodontia of permanent maxillary central incisor, Preauricular skin tag, Posteriorly rotated ears, Short attention span, Seizures, Sandal gap, Prominent interphalangeal joints, Severe global developmental delay, Dry hair, EEG with generalized spikes, Abnormal social behavior, Thin upper lip vermilion, Microcephaly, Triangular face, Sparse scalp hair",0]
["305100","Ectodermal Dysplasia 1, Hypohidrotic, X-Linked; XHED","y","22835214",243818,"EDA","NM_001399.4:c.912_921delTAGTCAGGTA",1,17,"Alveolar process hypoplasia, Hypoplasia of the maxilla, Heat intolerance, Absent eyelashes, Dry skin, Aplasia/Hypoplasia of the mandible, Anodontia, Agenesis of permanent teeth, Absent eyebrow, Mandibular prognathia, Oligodontia, Periorbital hyperpigmentation, Periorbital wrinkles, Sparse hair, Concave nasal ridge, Thick vermilion border, Prominent forehead",0]
["176670","Hutchinson-Gilford Progeria Syndrome; HGPS","y","22991222",226376,"LMNA","NM_170707.3:c.412G>A",1,26,"Broad forehead, Global developmental delay, Generalized bone demineralization, Frontal balding, Prominent nose, Dental crowding, Coxa valga, Aortic regurgitation, Abnormality of subcutaneous fat tissue, Left ventricular hypertrophy, Limited knee extension, Micrognathia, Minimal subcutaneous fat, Mitral regurgitation, Mixed hypo- and hyperpigmentation of the skin, Overlapping toe, Pericardial effusion, Thin vermilion border, Retrognathia, Sparse eyelashes, Tricuspid regurgitation, Camptodactyly, Scleroderma, Microcephaly, Proptosis, Sparse eyebrow",0]
["130650","Beckwith-Wiedemann Syndrome; BWS","y","23197429",240580,"CDKN1C","NM_000076.2:c.579delT",1,7,"Hypoplasia of the maxilla, Cleft palate, Anterior open-bite malocclusion, Abnormality of the helix, Macroglossia, Omphalocele, Anterior creases of earlobe",0]
["305400","Aarskog Syndrome","y","23211637",239823,"FGD1","NM_004463.2:c.1341G>A",1,12,"Hypertelorism, High palate, Coxa magna, Arthropathy, Abnormality of the knee, Metatarsus adductus, Micrognathia, Mitochondrial myopathy, Anteverted nares, Short nose, Shawl scrotum, Soft tissue swelling of interphalangeal joints",0]
["252900, 252920, 252930, 253000, 253010, 253200, 253220, 309900, 601492, 607014, 607015, 607016","Mucopolysaccharidosis, Type II; MPS2","y","23232253",153462,"IDS","NM_000202.5:c.1327C>T",1,17,"Kyphosis, Hepatosplenomegaly, Depressed nasal bridge, Limitation of joint mobility, Ankle contracture, Coarse facial features, Joint contracture of the hand, Knee flexion contracture, Localized hirsutism, Anteverted nares, Short neck, Umbilical hernia, Respiratory distress, Recurrent respiratory infections, Macrocephaly, Thick eyebrow, Severe hearing impairment",0]
["304110","Craniofrontonasal Syndrome; CFNS","y","23335590",222707,"EFNB1","NM_004429.4:c.496C>T",1,21,"Hypertelorism, Clinodactyly of the 5th toe, Agenesis of corpus callosum, Downslanted palpebral fissures, Brachydactyly, Coronal craniosynostosis, Sprengel anomaly, Clinodactyly of the 5th finger, Cleft palate, Abnormality of the dentition, Abnormality of the nasal tip, 2-3 toe syndactyly, 2-3 finger syndactyly, Specific learning disability, Low-set ears, Ridged nail, Dry hair, Deviated nasal tip, Ptosis, Unilateral cryptorchidism, Cleft lip",0]
["304110","Craniofrontonasal Syndrome; CFNS","y","23335590",222736,"EFNB1","NM_004429.4:c.196C>T",1,22,"Hypertelorism, High palate, Hearing impairment, Agenesis of corpus callosum, Downslanted palpebral fissures, Brachydactyly, Coronal craniosynostosis, Abnormality of the dentition, Abnormality of the nasal tip, Specific learning disability, Low-set ears, Pectus excavatum, Vesicoureteral reflux, Syndactyly, Ridged nail, Scoliosis, Dry hair, Deviated nasal tip, Oral-pharyngeal dysphagia, Ptosis, Unilateral cryptorchidism, Clinodactyly",0]
["304110","Craniofrontonasal Syndrome; CFNS","y","23335590",222738,"EFNB1","NM_004429.4:c.404C>A",1,12,"Hypertelorism, Clinodactyly of the 5th toe, Downslanted palpebral fissures, Coronal craniosynostosis, Clinodactyly of the 5th finger, Abnormality of the nasal tip, Specific learning disability, Low-set ears, Webbed neck, Ridged nail, Widely patent coronal suture, Deviated nasal tip",0]
["305400","Aarskog Syndrome","y","23443263",239826,"FGD1","NM_004463.2:c.482-2A>G",1,12,"Hypertelorism, Short stature, Finger syndactyly, Brachydactyly, Wide nasal bridge, Bilateral cryptorchidism, Astigmatism, Amblyopia, Intellectual disability, mild, Small hand, Broad philtrum, Prominent forehead",0]
["101200","Apert Syndrome","y","23546041",240061,"FGFR2","NM_000141.4:c.758C>G",1,21,"Short hallux, Hypertelorism, High palate, Fusion of midphalangeal joints, Depressed nasal bridge, Craniosynostosis, Brachyturricephaly, Brachycephaly, Bicoronal synostosis, 1-5 toe syndactyly, 1-5 finger syndactyly, Large fleshy ears, Metopic synostosis, Anteverted nares, Small anterior fontanelle, Syndactyly, Thin upper lip vermilion, Ptosis, Proptosis, Frontal bossing, Midface retrusion",0]
["230740","Gapo Syndrome","y","23602711",213174,"ANTXR1","NM_032208.2:c.505C>T",1,32,"Hypertelorism, Broad forehead, Short stature, Depressed nasal bridge, Facial palsy, Esotropia, Epicanthus, Alopecia, Abnormality of visual evoked potentials, Abnormality of the nares, Abnormality of the anterior fontanelle, Abnormality of pattern reversal visual evoked potentials, Megalocornea, Joint hypermobility, Long philtrum, Micrognathia, Anteverted nares, Enlarged naris, Short nose, Nystagmus, Optic atrophy, Persistent open anterior fontanelle, Plagiocephaly, Wide anterior fontanel, Shallow anterior chamber, Sparse eyelashes, Unerupted tooth, Umbilical hernia, Thick lower lip vermilion, Sparse and thin eyebrow, Frontal bossing, Retinal vascular tortuosity",0]
["230740","Gapo Syndrome","y","23602711",213175,"ANTXR1","NM_032208.2:c.262C>T",1,29,"Hypertelorism, Broad forehead, Short stature, Depressed nasal bridge, Facial palsy, Esotropia, Epicanthus, Delayed skeletal maturation, Alopecia, Abnormality of visual evoked potentials, Abnormality of pattern reversal visual evoked potentials, Megalocornea, Joint hypermobility, Long philtrum, Micrognathia, Anteverted nares, Enlarged naris, Short nose, Nystagmus, Optic atrophy, Persistent open anterior fontanelle, Plagiocephaly, Wide anterior fontanel, Sparse eyelashes, Unerupted tooth, Umbilical hernia, Thick lower lip vermilion, Frontal bossing, Sparse eyebrow",0]
["230740","Gapo Syndrome","y","23602711",213178,"ANTXR1","NM_032208.2:c.143A>G",1,27,"Hypertelorism, Broad forehead, Short stature, Depressed nasal bridge, Esotropia, Epicanthus, Delayed skeletal maturation, Alopecia, Joint hypermobility, Long philtrum, Micrognathia, Anteverted nares, Enlarged naris, Short nose, Nystagmus, Optic atrophy, Persistent open anterior fontanelle, Plagiocephaly, Wide anterior fontanel, Sparse eyelashes, Unerupted tooth, Syndactyly, Umbilical hernia, Thick lower lip vermilion, Frontal bossing, Retinal vascular tortuosity, Sparse eyebrow",0]
["230740","Gapo Syndrome","y","23602711",213177,"ANTXR1","NM_032208.2:c.262C>T",1,28,"Hypertelorism, Broad forehead, Short stature, Depressed nasal bridge, Finger syndactyly, Facial palsy, Epicanthus, Delayed skeletal maturation, Alopecia, Abnormality of the scalp, Megalocornea, Long philtrum, Micrognathia, Anteverted nares, Enlarged naris, Short nose, Persistent open anterior fontanelle, Plagiocephaly, Wide anterior fontanel, Shallow anterior chamber, Sparse eyelashes, Unerupted tooth, Syndactyly, Umbilical hernia, Thick lower lip vermilion, Frontal bossing, Retinal vascular tortuosity, Sparse eyebrow",0]
["616938","Coffin-Siris Syndrome 5; CSS5","y","23637025, 22426308",144378,"SMARCE1","NM_003079.4:c.218A>G",1,14,"Feeding difficulties in infancy, Absent speech, Abnormality of the pinna, Muscular hypotonia, Narrow nasal bridge, Seizures, Recurrent infections, Sparse hair, Severe global developmental delay, Microcephaly, Ptosis, Thick eyebrow, Prominent eyelashes, Feeding difficulties",0]
["252500","Mucolipidosis II Alpha/beta","y","23773965",156396,"GNPTAB","NM_024312.4:c.1071G>A",1,16,"Global developmental delay, Gingival overgrowth, Depressed nasal bridge, Epicanthus, Enlargement of the wrists, Delayed eruption of primary teeth, Motor delay, Coarse facial features, Abnormality of the ribs, Limited hip movement, Limited knee flexion, Osteopenia, Poor speech, Poor suck, Umbilical hernia, Scoliosis",0]
["252500","Mucolipidosis II Alpha/beta","y","23773965",156397,"GNPTAB","NM_024312.4:c.1090C>T",1,18,"Glenoid fossa hypoplasia, Short clavicles, Hepatomegaly, Depressed nasal bridge, Enlargement of the wrists, Dysostosis multiplex, Coarse facial features, Broad finger, Abnormality of the scapula, Abnormality of the ribs, Left ventricular hypertrophy, Long philtrum, Muscular hypotonia, Narrow forehead, Open mouth, Scoliosis, Severe global developmental delay, Sparse and thin eyebrow",0]
["269880","Short Syndrome","y","23810378",247976,"PIK3R1","NM_181523.2:c.1945C>T",1,21,"Delayed speech and language development, Underdeveloped nasal alae, Hypermetropia, Esotropia, Deeply set eye, Delayed skeletal maturation, Delayed eruption of teeth, Astigmatism, Absence of subcutaneous fat, Insulin resistance, Joint laxity, Large fleshy ears, Low-set ears, Micrognathia, Ovarian cyst, Rieger anomaly, Type I diabetes mellitus, Triangular face, Short chin, Prominent forehead, Midface retrusion",0]
["269880","Short Syndrome","y","23810378",247962,"PIK3R1","NM_181523.2:c.1615_1617delATT",1,19,"Delayed speech and language development, Underdeveloped nasal alae, Hypermetropia, Deeply set eye, Delayed skeletal maturation, Delayed eruption of teeth, Astigmatism, Absence of subcutaneous fat, Insulin resistance, Macrotia, Low-set ears, Micrognathia, Pointed chin, Prominent superficial veins, Premature skin wrinkling, Triangular face, Short chin, Prominent forehead, Midface retrusion",0]
["269880","Short Syndrome","y","23810378",247983,"PIK3R1","NM_181523.2:c.1945C>T",1,18,"Underdeveloped nasal alae, Deeply set eye, Diabetes mellitus, Delayed eruption of teeth, Absence of subcutaneous fat, Insulin resistance, Joint laxity, Large fleshy ears, Low-set ears, Micrognathia, Ovarian cyst, Pointed chin, Rieger anomaly, Recurrent infections, Triangular face, Short chin, Prominent forehead, Midface retrusion",0]
["304110","Craniofrontonasal Syndrome; CFNS","y","23845783",224213,"EFNB1","NM_004429.4:c.402T>C",1,17,"Hypertelorism, Increased circulating ACTH level, Downslanted palpebral fissures, Craniosynostosis, Broad hallux, Bifid nasal tip, Wide nasal bridge, Brachycephaly, Abnormality of the metopic suture, Narrow chest, Partial duplication of the distal phalanx of the hallux, Wide anterior fontanel, Short neck, Wide intermamillary distance, Down-sloping shoulders, Telecanthus, Frontal bossing",0]
["304110","Craniofrontonasal Syndrome; CFNS","y","23851793",224214,"EFNB1","NM_004429.4:c.30C>T",1,18,"Delayed speech and language development, Hypoplasia of the corpus callosum, Hypertelorism, Hiatus hernia, Global developmental delay, Ectopic kidney, Dysplastic corpus callosum, Motor delay, Clinodactyly of the 5th finger, Toe clinodactyly, Anteriorly placed anus, Abnormality of the dentition, Abnormality of the striatum, Joint laxity, Low-set nipples, Ridged nail, Wide intermamillary distance, Frontal bossing",1,"Pulmonic stenosis"]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome 2; CSS2","y","23906836",213245,"ARID1A","NM_006015.4:c.5965C>T",1,33,"Shortening of all distal phalanges of the fingers, Hyperactivity, Highly arched eyebrow, Generalized hirsutism, Depressed nasal bridge, Delayed skeletal maturation, Motor delay, Cryptorchidism, Coarse facial features, Wide nose, Aplasia/Hypoplasia of the nails, Abnormality of the corpus callosum, Long eyelashes, Low anterior hairline, Low-set ears, Macroglossia, Muscular hypotonia, Anteverted nares, Wide mouth, Seizures, Sandal gap, Prominent interphalangeal joints, Thick nasal alae, Short metacarpal, Short metatarsal, Thick vermilion border, Thin upper lip vermilion, Short philtrum, Strabismus, Ptosis, Thick eyebrow, Synophrys, Narrow palpebral fissure",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome 2; CSS2","y","23929686",213333,"ARID1A","NM_006015.4:c.3679G>T",1,14,"Visual impairment, Depressed nasal bridge, Delayed gross motor development, Delayed eruption of teeth, Delayed eruption of primary teeth, Delayed eruption of permanent teeth, Wide nasal bridge, Aplasia/Hypoplasia of the nails, Abnormality of vision, Abnormality of the pinna, Long eyelashes, Muscular hypotonia, Anteverted nares, Feeding difficulties",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome 2; CSS2","y","23929686",213332,"ARID1A","NM_006015.4:c.1113delG",1,14,"Delayed speech and language development, Depressed nasal bridge, Delayed gross motor development, Delayed eruption of teeth, Delayed eruption of primary teeth, Delayed eruption of permanent teeth, Aplasia/Hypoplasia of the nails, Abnormality of the dentition, Abnormality of the pinna, Long eyelashes, Muscular hypotonia, Anteverted nares, Ptosis, Feeding difficulties",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome 2; CSS2","y","23929686",213254,"ARID1A","NM_006015.4:c.6493G>T",1,12,"Hypoplastic toenails, Depressed nasal bridge, Delayed gross motor development, Delayed eruption of teeth, Delayed eruption of permanent teeth, Motor delay, Aplasia/Hypoplasia of the nails, Abnormality of vision, Abnormality of the pinna, Long eyelashes, Muscular hypotonia, Feeding difficulties",0]
["222448","Donnai-Barrow Syndrome","y","23992033",249111,"LRP2","NM_004525.2:c.11483A>G",3,17,"Highly arched eyebrow, Esotropia, Epicanthus, Downslanted palpebral fissures, Malar flattening, Bulbous nose, Abnormal vitreous humor morphology, Proteinuria, Retrognathia, Prominent supraorbital ridges, Triangular nasal tip, High myopia, Strabismus, Thick eyebrow, Abnormality of the optic disc, Vitreous strands, Beta 2-microglobulinuria",0]
["222448","Donnai-Barrow Syndrome","y","23992033",249115,"LRP2","NM_004525.2:c.11483A>G",2,28,"Hypermobility of toe joints, Hypermobility of interphalangeal joints, Hypermobility of distal interphalangeal joints, Highly arched eyebrow, Genu recurvatum, Finger joint hypermobility, Esotropia, Epicanthus, Malar flattening, Retinal detachment, Cataract, Bulbous nose, Abnormal vitreous humor morphology, Abnormal retinal morphology, Joint hypermobility, Low-molecular-weight proteinuria, Pes planus, Poor fine motor coordination, Prominent supraorbital ridges, Subcapsular cataract, Posterior vitreous detachment, Macular atrophy, High myopia, Thick eyebrow, Abnormality of the optic disc, Knee pain, Ankle pain, Beta 2-microglobulinuria",0]
["251260","Nijmegen Breakage Syndrome; NBS","y","24044622",247657,"NBN","NM_002485.4:c.657_661delACAAA",1,24,"Hypopigmented skin patches, Hypertelorism, Elevated erythrocyte sedimentation rate, Elevated C-reactive protein level, IgM deficiency, IgG deficiency, IgA deficiency, Bronchiectasis, Bird-like facies, Arthritis, 2-3 toe syndactyly, Intrauterine growth retardation, Large fleshy ears, Malar prominence, Recurrent otitis media, Swelling of proximal interphalangeal joints, Recurrent pneumonia, Recurrent bronchopulmonary infections, Microcephaly, Upslanted palpebral fissure, Clinodactyly, Hip pain, Stiff wrist, Stiff knee",0]
["154500, 248390, 613717","Treacher Collins Syndrome","y","24108658",243492,"TCOF1","NM_001135243.1:c.1406_1409delAGAG",1,7,"Absent eyelashes, Downslanted palpebral fissures, Malar flattening, Lower eyelid coloboma, Abnormality of the pinna, Micrognathia, Stenosis of the external auditory canal",0]
["602483, 615706","Auriculocondylar Syndrome","y","24268655",240074,"EDN1","NM_001955.4:c.271A>G",1,8,"Full cheeks, Bifid uvula, Abnormality of the uvula, Micrognathia, Narrow mouth, Hamartoma of tongue, Submucous cleft soft palate, Question mark ear",0]
["303600","Coffin-Lowry Syndrome; CLS","y","24311527",227481,"RPS6KA3","NM_004586.2:c.1570dup",1,17,"Hypertelorism, High palate, Smooth philtrum, Everted lower lip vermilion, Distal tapering of metatarsals, Broad columella, Abnormality of the hand, Kyphoscoliosis, Pectus excavatum, Short nose, Wide mouth, Widely spaced teeth, Thoracolumbar scoliosis, Tapering pointed ends of distal finger phalanges, Spondylolisthesis at L5-S1, Thick lower lip vermilion, Finger swelling",0]
["122470, 300590, 300882, 610759, 614701","Cornelia De Lange Syndrome","y","24403048",158496,"HDAC8","NM_018486.2:c.1112-5_1115delTGCAGGGAA",1,15,"Hypoplastic male external genitalia, Hiatus hernia, Postnatal growth retardation, Global developmental delay, Gastroesophageal reflux, Motor delay, Bilateral cryptorchidism, Absent speech, Intellectual disability, Intrauterine growth retardation, Large fontanelles, Large posterior fontanelle, Median cleft palate, Wide anterior fontanel, Severe hearing impairment",1,"Seizures"]
["192430","Velocardiofacial Syndrome","y","24637876",251549,"TBX1","NM_080647.1:c.1253delA",1,13,"Delayed speech and language development, Hypoparathyroidism, Hypocalcemia, Hypertelorism, Hyperphosphatemia, Graves disease, Global developmental delay, Blepharophimosis, Low-set ears, Micrognathia, Narrow nose, Velopharyngeal insufficiency, Recurrent otitis media",0]
["192430","Velocardiofacial Syndrome","y","24637876",251548,"TBX1","NM_080647.1:c.1253delA",1,11,"Delayed speech and language development, Hypoparathyroidism, Hypocalcemia, Hypertelorism, Hyperphosphatemia, Global developmental delay, Blepharophimosis, Low-set ears, Micrognathia, Narrow nose, Velopharyngeal insufficiency",0]
["182290","Smith-Magenis Syndrome; SMS","y","24715852",248304,"RAI1","NM_030665.3:c.2763_2779dup",1,9,"Global developmental delay, Abnormal facial shape, Brachycephaly, Behavioral abnormality, Joint hypermobility, Sleep disturbance, Macrocephaly, Tented upper lip vermilion, Overweight",0]
["182290","Smith-Magenis Syndrome; SMS","y","24715852",247951,"RAI1","NM_030665.3:c.2643delC",2,12,"Hypermetropia, Global developmental delay, Self-injurious behavior, Astigmatism, Aggressive behavior, Joint hypermobility, Single transverse palmar crease, Sleep disturbance, Microcephaly, Short philtrum, Uplifted earlobe, Tented upper lip vermilion",0]
["182290","Smith-Magenis Syndrome; SMS","y","24715852",247957,"RAI1","NM_030665.3:c.2869_2870insGG",1,18,"Delayed speech and language development, Hyperactivity, High forehead, Global developmental delay, Everted lower lip vermilion, Broad foot, Self-injurious behavior, Aggressive behavior, Joint hypermobility, Obesity, Sleep disturbance, Short palm, Head-banging, Thick vermilion border, Recurrent bronchiolitis, Square face, Short philtrum, Tented upper lip vermilion",0]
["176670","Hutchinson-Gilford Progeria Syndrome; HGPS","y","24861648",226371,"LMNA","NM_170707.3:c.11C>G",1,16,"Dental crowding, Adipose tissue loss, Foot acroosteolysis, Absent axillary hair, Intellectual disability, Loss of subcutaneous adipose tissue in limbs, Micrognathia, Narrow mouth, Increased adipose tissue around the neck, Pointed helix, Retrognathia, Prominent superficial veins, Protuberant abdomen, Narrow nasal tip, Proptosis, Sparse scalp hair",0]
["303600","Coffin-Lowry Syndrome; CLS","y","25044551",249886,"RPS6KA3","NM_004586.2:c.1602+3_1602+6delAAGT",1,20,"Hypodontia, Hypertelorism, Kyphosis, Short stature, Everted upper lip vermilion, Everted lower lip vermilion, Downslanted palpebral fissures, Motor delay, Broad nasal tip, Wide nose, Attention deficit hyperactivity disorder, Intellectual disability, severe, Tapered finger, Mitral regurgitation, Peg-shaped maxillary lateral incisors, Wide mouth, Protruding ear, Scoliosis, Thick vermilion border, Prominent forehead",0]
["303600","Coffin-Lowry Syndrome; CLS","y","25044551",249891,"RPS6KA3","NM_004586.2:c.262dupA",1,23,"Short fifth metatarsal, Hypodontia, Hypertelorism, Hydrocephalus, Short stature, Everted upper lip vermilion, Everted lower lip vermilion, Downslanted palpebral fissures, Motor delay, Broad nasal tip, Wide nose, Attention deficit hyperactivity disorder, Agenesis of incisor, Abnormality of the fifth metatarsal bone, Intellectual disability, severe, Tapered finger, Pectus carinatum, Wide mouth, Protruding ear, Scoliosis, Thick lower lip vermilion, Thick upper lip vermilion, Prominent forehead",0]
["303600","Coffin-Lowry Syndrome; CLS","y","25118007",227435,"RPS6KA3","NM_004586.2:c.865_866delCA",1,6,"Hypertelorism, Global developmental delay, Epicanthus, Blue irides, Abnormality of the palmar creases, Abnormality of the hand",0]
["303600","Coffin-Lowry Syndrome; CLS","y","25118007",227434,"RPS6KA3","NM_004586.2:c.865_866delCA",1,7,"Hypertelorism, High axial triradius, Global developmental delay, Motor delay, Abnormality of the hand, Abnormal finger flexion creases, Telecanthus",0]
["303600","Coffin-Lowry Syndrome; CLS","y","25118007",227433,"RPS6KA3","NM_004586.2:c.865_866delCA",1,7,"Delayed speech and language development, Hypertelorism, High axial triradius, Global developmental delay, Abnormality of the hand, Telecanthus, Finger swelling",0]
["614608","Coffin-Siris Syndrome 3; CSS3","y","25168959, 22426308",144385,"SMARCB1","NM_003073.3:c.1091_1093del",1,26,"Impulsivity, Short finger, Short 5th finger, Hypoplastic fifth fingernail, Short toe, Hypertrichosis, Hyperactivity, Cleft palate, Wide nasal bridge, Self-injurious behavior, Absent speech, Long eyelashes, Muscular hypotonia, Seizures, Scoliosis, Prominent interphalangeal joints, Severe global developmental delay, Short 5th toe, Hypoplastic fifth toenail, Thick lower lip vermilion, Thin upper lip vermilion, Broad philtrum, Thick eyebrow, Sparse scalp hair, Severe hearing impairment, Feeding difficulties",0]
["614609","Coffin-Siris Syndrome 4; CSS","y","25168959, 22426308",144380,"SMARCA4","NM_001128849.1:c.2653C>T",1,17,"Visual impairment, Hyperactivity, Generalized hypertrichosis, Everted upper lip vermilion, Cleft palate, Self-injurious behavior, Absent speech, Long eyelashes, Muscular hypotonia, Severe global developmental delay, Hypoplastic fifth toenail, Thick lower lip vermilion, Short philtrum, Ptosis, Thick eyebrow, Moderate hearing impairment, Feeding difficulties",0]
["614609","Coffin-Siris Syndrome 4; CSS","y","25168959, 22426308",144382,"SMARCA4","NM_001128849.1:c.1636_1638del",1,12,"Visual impairment, Hypoplastic fifth fingernail, Hypertrichosis, Everted upper lip vermilion, Long eyelashes, Long philtrum, Muscular hypotonia, Narrow nasal bridge, Seizures, Submucous cleft soft palate, Ptosis, Thick eyebrow",0]
["607014","Hurler Syndrome","y","25256405",245712,"IDUA","NM_000203.3:c.53T>C",7,9,"Split hand, Urinary glycosaminoglycan excretion, Curved proximal phalanges of the hand, Asthma, Increased bone mineral density, Ivory epiphyses of the middle phalanges of the hand, Ivory epiphyses of the proximal phalanges of the hand, Recurrent respiratory infections, Lower limb pain",2,"Global developmental delay, Visceromegaly"]
["150230, 190350, 190351","Trichorhinophalangeal Syndrome","y","25333908",205216,"TRPS1","NM_014112.2:c.2726G>A",1,19,"Short middle phalanx of the 5th finger, Short middle phalanx of the 2nd finger, Short distal phalanx of the 3rd finger, Short distal phalanx of the 2nd finger, Short stature, Growth delay, Fine hair, Fair hair, Externally rotated hips, Brachydactyly, Decreased body weight, Cone-shaped epiphysis of the middle phalanx of the 5th finger, Cone-shaped epiphysis of the middle phalanx of the 2nd finger, Cone-shaped epiphysis of the distal phalanx of the 3rd finger, Cone-shaped epiphysis of the distal phalanx of the 2nd finger, Avascular necrosis of the capital femoral epiphysis, Long philtrum, Pear-shaped nose, Anteverted ears",0]
["154500, 248390, 613717","Treacher Collins Syndrome","y","25379503",246191,"TCOF1","NM_000356.3:c.880del",1,8,"Hypoplasia of the maxilla, Dysphagia, Drooling, Motor delay, Cleft palate, Abnormality of the hard palate, Nasal regurgitation, Nasogastric tube feeding",0]
["130720","Lateral Meningocele Syndrome; LMNS","y","25394726",229691,"NOTCH3","NM_000435.2:c.6461_6486del26",1,31,"Short 3rd finger, Short 2nd finger, Highly arched eyebrow, High pitched voice, High, narrow palate, Global developmental delay, Dolichocephaly, Malar flattening, Coarse hair, Broad phalanges of the 3rd finger, Broad phalanges of the 2nd finger, Syringomyelia, Ascending tubular aorta aneurysm, Inguinal hernia, Intellectual disability, Joint hypermobility, Keloids, Long face, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Micrognathia, Muscular hypotonia, Wormian bones, Scoliosis, Thickened calvaria, Vertebral fusion, Disproportionate short stature, Thin upper lip vermilion, Ptosis, Midface retrusion",0]
["130720","Lateral Meningocele Syndrome; LMNS","y","25394726",229693,"NOTCH3","NM_000435.2:c.6663C>G",1,36,"Underdeveloped supraorbital ridges, Hypertelorism, Nasal speech, Highly arched eyebrow, High pitched voice, High forehead, High, narrow palate, Global developmental delay, Conductive hearing impairment, Downslanted palpebral fissures, Malar flattening, Dental crowding, Cryptorchidism, Coarse hair, Bicuspid aortic valve, Intellectual disability, Joint hypermobility, Joint laxity, Keloids, Long philtrum, Low posterior hairline, Low-set, posteriorly rotated ears, Micrognathia, Pectus excavatum, Muscular hypotonia, Obstructive sleep apnea, Umbilical hernia, Scoliosis, Thickened calvaria, Wide intermamillary distance, Sleep apnea, Thin upper lip vermilion, Telecanthus, Ptosis, Tented upper lip vermilion, Midface retrusion",0]
["130720","Lateral Meningocele Syndrome; LMNS","y","25394726",229692,"NOTCH3","NM_000435.2:c.6732C>A",1,26,"Visual impairment, Hypertelorism, High pitched voice, High, narrow palate, Short stature, Global developmental delay, Downslanted palpebral fissures, Malar flattening, Cryptorchidism, Coarse hair, Cleft palate, Ascending tubular aorta aneurysm, Abnormality of the sternum, Inguinal hernia, Intellectual disability, Joint hypermobility, Low-set ears, Micrognathia, Mixed hearing impairment, Muscular hypotonia, Otitis media, Patent ductus arteriosus, Ventricular septal defect, Scoliosis, Vertebral fusion, Ptosis",0]
["130720","Lateral Meningocele Syndrome; LMNS","y","25394726",229694,"NOTCH3","NM_000435.2:c.6247A>T",1,42,"Delayed speech and language development, Hypoplastic nasal tip, Underdeveloped supraorbital ridges, Nasal speech, Highly arched eyebrow, High pitched voice, High palate, High forehead, Short stature, Generalized hypotonia, Gait disturbance, Facial hypotonia, Epicanthus, Downslanted palpebral fissures, Dolichocephaly, Malar flattening, Dental crowding, Motor delay, Bell-shaped thorax, Coarse hair, Bowel incontinence, Urinary incontinence, Joint hypermobility, Joint laxity, Keloids, Low back pain, Low-set ears, Low-set, posteriorly rotated ears, Macrocytic anemia, Meningocele, Micrognathia, Pectus excavatum, Omphalocele, Peripheral neuropathy, Persistent open anterior fontanelle, Pneumonia, Tethered cord, Thin upper lip vermilion, Telecanthus, Ptosis, Midface retrusion, Unilateral cryptorchidism",0]
["145410","Opitz GBBB Syndrome, Type II; GBBB2","y","25412741",247901,"SPECC1L","NM_015330.4:c.1189A>C",1,7,"Bicornuate uterus, Hypertelorism, Depressed nasal bridge, Wide nasal bridge, Bilateral cleft lip and palate, Umbilical hernia, Prominent forehead",0]
["145410","Opitz GBBB Syndrome, Type II; GBBB2","y","25412741",247903,"SPECC1L","NM_015330.4:c.3247G>A",1,23,"Hypertelorism, Prominent nasal bridge, Hearing impairment, Depressed nasal bridge, Dysphagia, Downslanted palpebral fissures, Cleft palate, Cardiomegaly, Wide nasal bridge, Abnormality of the nasal tip, Abnormality of the metopic suture, Megalencephaly, Micrognathia, Anteverted nares, Posteriorly rotated ears, Vesicoureteral reflux, Umbilical hernia, Sagittal craniosynostosis, Prominent metopic ridge, Dilatation of the ventricular cavity, Stridor, Broad philtrum, Prominent forehead",0]
["145410","Opitz GBBB Syndrome, Type II; GBBB2","y","25412741",247890,"SPECC1L","NM_015330.4:c.1189A>C",1,13,"Hypertelorism, Hearing impairment, Depressed nasal bridge, Downslanted palpebral fissures, Motor delay, Congenital diaphragmatic hernia, Wide nasal bridge, Bilateral cleft lip and palate, Micrognathia, Muscular hypotonia of the trunk, Vesicoureteral reflux, Stahl ear, Prominent forehead",0]
["145410","Opitz GBBB Syndrome, Type II; GBBB2","y","25412741",245469,"SPECC1L","XM_005261406.1:c.1189A>C",1,7,"Hypertelorism, Downslanted palpebral fissures, Congenital diaphragmatic hernia, Wide nasal bridge, Bilateral cleft lip and palate, Micrognathia, Prominent forehead",0]
["608572","Burn-Mckeown Syndrome; BMKS","y","25434003, 14564154",241347,"TXNL4A","NM_006701.2:c.349G>T",1,15,"Hypertelorism, Prominent nasal bridge, Feeding difficulties in infancy, Lower eyelid coloboma, Bilateral conductive hearing impairment, Bilateral choanal atresia, Bifid uvula, Abnormality of the outer ear, Abnormality of the antihelix, 2-3 toe syndactyly, Median cleft palate, Narrow mouth, Protruding ear, Short philtrum, Short palpebral fissure",0]
["608572","Burn-Mckeown Syndrome; BMKS","y","25434003, 27413799",249133,"TXNL4A","NM_006701.2:c.153+3A>G",3,4,"Prominent nasal bridge, Choanal atresia, Abnormality of periauricular region, Short philtrum",0]
["133540, 216400","Cockayne Syndrome","y","25463447",224287,"ERCC6","NM_000124.3:c.1607T>G, NM_000124.3:c.1595A>G",1,18,"Delayed speech and language development, Hypoplasia of dental enamel, Postnatal growth retardation, Global developmental delay, Facial erythema, Deeply set eye, Dental malocclusion, Delayed gross motor development, Delayed fine motor development, Motor delay, Carious teeth, Cachexia, Skeletal muscle atrophy, Large beaked nose, Loss of facial adipose tissue, Cutaneous photosensitivity, Delayed social development, Triangular face",0]
["118450, 610205","Alagille Syndrome","y","25596152",224391,"JAG1","NM_000214.2:c.270delG",1,21,"Hypertelorism, Hyperbilirubinemia, High forehead, Broad forehead, Hepatosplenomegaly, Episodic vomiting, Deeply set eye, Elevated hepatic transaminases, Anemia, Butterfly vertebrae, Antenatal intracerebral hemorrhage, Jaundice, Mandibular prognathia, Prolonged neonatal jaundice, Pallor, Patent ductus arteriosus, Pointed chin, Seizures, Peripheral pulmonary artery stenosis, Acholic stools, Triangular face",0]
["100800","Achondroplasia; ACH","y","25691418",240019,"FGFR3","NM_000142.4:c.1138G>A",1,24,"Prominent forehead, Frontal bossing, Depressed nasal bridge, Midface retrusion, Upper limb undergrowth, Short lower limbs, Trident hand, Thoracolumbar kyphosis, Scaphocephaly, Deeply set eye, Hypertelorism, High palate, Anterior open-bite malocclusion, Large fleshy ears, Low-set ears, Short neck, Joint hypermobility, Deep palmar crease, Intellectual disability, Small foramen magnum, Spinal canal stenosis, Hypoplasia of the odontoid process, Hypoplasia of the corpus callosum, Abnormality of the cerebral ventricles",0]
["154500, 248390, 613717","Treacher Collins Syndrome","y","25790162",246163,"POLR1D","NM_015972.3:c.259C>T",1,4,"Conductive hearing impairment, Downslanted palpebral fissures, Malar flattening, Microtia",0]
["154500, 248390, 613717","Treacher Collins Syndrome","y","25790162",246151,"TCOF1","NM_000356.3:c.4009_4016delAGCAGCAG",1,4,"Conductive hearing impairment, Downslanted palpebral fissures, Malar flattening, Microtia",0]
["176670","Hutchinson-Gilford Progeria Syndrome; HGPS","y","25820511",226363,"LMNA","NM_005572.3:c.917T>G",1,18,"Global developmental delay, Increased muscle lipid content, Delayed eruption of teeth, Cardiomyopathy, Alopecia, Adipose tissue loss, Lipodystrophy, Osteolysis, Osteoporosis, Small face, Skin rash, Reduced subcutaneous adipose tissue, Tricuspid regurgitation, Severe postnatal growth retardation, Right ventricular cardiomyopathy, Progeroid facial appearance, Increased circulating free fatty acid level, Raynaud phenomenon",0]
["305620","Frontometaphyseal Dysplasia; FMD","y","25873011",244742,"FLNA","NM_001110556.1:c.3394G>T",1,19,"Hypertelorism, Hallux valgus, Genu valgum, Elbow flexion contracture, Downslanted palpebral fissures, Contractures of the interphalangeal joint of the thumb, Arachnodactyly, Abnormality of the forehead, Sloping forehead, Micrognathia, Mixed hearing impairment, Pansynostosis, Prominent supraorbital ridges, Short tubular bones of the hand, Tibial bowing, Radial bowing, Undulate clavicles, Slender toe, Abnormality of the frontal bone",0]
["305620","Frontometaphyseal Dysplasia; FMD","y","25873011",246227,"FLNA","NM_001110556.1:c.760G>A",1,7,"Hypertelorism, Cleft palate, Broad hallux, Broad thumb, Prominent supraorbital ridges, Sagittal craniosynostosis, Prominent forehead",0]
["235730","Mowat-Wilson Syndrome; MOWS","y","25899569",247635,"ZEB2","NM_014795.3:c.245C>G",2,18,"Hiatus hernia, Global developmental delay, Generalized seizures, Deeply set eye, EEG abnormality, Agenesis of corpus callosum, Atrial septal defect, Absent speech, Abnormality of the columella, Abnormal aortic valve morphology, Intrauterine growth retardation, Mandibular prognathia, Maternal diabetes, Microphthalmia, Microtia, Volvulus, Upslanted palpebral fissure, Uplifted earlobe",0]
["252900, 252920, 252930, 253000, 253010, 253200, 253220, 309900, 601492, 607014, 607015, 607016","Mucopolysaccharidosis, Type II; MPS2","y","25976201",153453,"IDS","NM_000202.5:c.253G>A",1,16,"Short finger, Hoarse voice, Hepatosplenomegaly, Short stature, Genu valgum, Dysostosis multiplex, Contracture of the distal interphalangeal joint of the fingers, Coarse facial features, Broad ribs, Aortic regurgitation, Abnormality of pelvic girdle bone morphology, Mitral regurgitation, Multiple joint contractures, Umbilical hernia, Protuberant abdomen, Scoliosis",0]
["235730","Mowat-Wilson Syndrome; MOWS","y","26012591",247632,"ZEB2","NM_014795.3:c.2083C>T",1,37,"Microcephaly, Hypospadias, Hydronephrosis, Diarrhea, Failure to thrive, Polymicrogyria, Hypoplasia of the corpus callosum, Atrial septal defect, Pulmonic stenosis, Wheezing, Gastroesophageal reflux, Tracheobronchomalacia, Laryngomalacia, Conductive hearing impairment, Bilateral conductive hearing impairment, Obstructive sleep apnea, EEG abnormality, Global developmental delay, Motor delay, Delayed gross motor development, Delayed fine motor development, Constipation, Short-segment aganglionic megacolon, Seizures, Narrow forehead, Prominent supraorbital ridges, Prominent nasal bridge, Malar prominence, Bulbous nose, Prominent nasal tip, Abnormality of the columella, Low-set ears, Uplifted earlobe, Long philtrum, Tented upper lip vermilion, Lower limb spasticity, Upper limb spasticity",0]
["305400","Aarskog Syndrome","y","26029706",206637,"FGD1","NM_004463.2:c.1990C>T",1,6,"Hypertelorism, Brachydactyly, Wide nose, Widow's peak, Ptosis, Clinodactyly",0]
["303600","Coffin-Lowry Syndrome; CLS","y","26043507",249881,"RPS6KA3","NM_004586.2:c.898C>T",1,23,"Inability to walk, Delayed speech and language development, Hypertelorism, Global developmental delay, Epicanthus, Motor delay, Anemia, Cerebral atrophy, Broad nasal tip, Wide nose, Absent speech, Abnormality of the periventricular white matter, Intellectual disability, Large fleshy ears, Large hands, Tapered finger, Lower limb hypertonia, Muscular hypotonia of the trunk, Pallor, Pectus carinatum, Upper limb hypertonia, Microcephaly, Prominent forehead",0]
["303600","Coffin-Lowry Syndrome; CLS","y","26043507",249883,"RPS6KA3","NM_004586.2:c.898C>T",1,2,"Hypertelorism, Intellectual disability",0]
["303600","Coffin-Lowry Syndrome; CLS","y","26043507",249880,"RPS6KA3","NM_004586.2:c.898C>T",1,25,"Inability to walk, Hypoplasia of the corpus callosum, Hypertelorism, Gliosis, Febrile seizures, Encephalopathy, Hip dislocation, Motor delay, Coarse facial features, Broad nasal tip, Wide nose, Absent speech, Intellectual disability, Intellectual disability, severe, Large fleshy ears, Large hands, Tapered finger, Macroglossia, Anteverted nares, Pectus carinatum, Periventricular leukomalacia, Thick vermilion border, Upper limb hypertonia, Microcephaly, Pschomotor retardation",0]
["305100","Ectodermal Dysplasia 1, Hypohidrotic, X-Linked; XHED","y","26046476",239517,"EDA","NM_001399.4:c.146T>A",1,11,"Hypohidrosis, Fine hair, Episodic fever, Dry skin, Atopic dermatitis, Abnormal number of teeth, Oligodontia, Sparse hair, Concave nasal ridge, Prominent forehead, Sparse eyebrow",0]
["176670","Hutchinson-Gilford Progeria Syndrome; HGPS","y","26122271",226359,"LMNA","NM_170707.3:c.406G>C, NM_170707.3:c.406G>C",1,8,"Fine hair, Diabetes mellitus, Cataract, Adipose tissue loss, Abnormality of the dentition, Abnormality of lipid metabolism, Osteoporosis, Alopecia of scalp",0]
["176670","Hutchinson-Gilford Progeria Syndrome; HGPS","y","26122271",226358,"LMNA","NM_170707.3:c.406G>C, NM_170707.3:c.406G>C",1,13,"Hypocholesterolemia, Hypertriglyceridemia, Hypertrichosis, Hyperpigmentation of the skin, Acanthosis nigricans, Fine hair, Failure of eruption of permanent teeth, Diabetes mellitus, Cataract, Adipose tissue loss, Abnormality of lipid metabolism, Osteoporosis, Persistence of primary teeth",0]
["602535","Marshall-Smith Syndrome; MRSHSS","y","26200704",249173,"NFIX","NM_001271043.1:c.1496delT",1,44,"Delayed speech and language development, Hypoplasia of the ulna, Hypoplasia of teeth, Highly arched eyebrow, High, narrow palate, Hallux valgus, Global developmental delay, Gingival overgrowth, Prominent occiput, Depressed nasal bridge, Wrist flexion contracture, Femoral bowing, Failure to thrive, Conductive hearing impairment, Drooling, Dolichocephaly, Motor delay, Decreased hip abduction, Coxa vara, Flexion contracture, Blue sclerae, Bilateral conductive hearing impairment, Intellectual disability, moderate, Laryngomalacia, Long fingers, Long toe, Malnutrition, Marked delay in bone age, Microretrognathia, Pectus excavatum, Muscular hypotonia of the trunk, Anteverted nares, Retrognathia, Vomiting, Thoracic scoliosis, Sparse hair, Stridor, Aspiration pneumonia, Triangular face, Proptosis, Frontal bossing, Thin fingernail, Clinodactyly, Feeding difficulties",0]
["303600","Coffin-Lowry Syndrome; CLS","y","26279655",227413,"RPS6KA3","NM_004586.2:c.575G>C",2,14,"Hypodontia, Short stature, Everted lower lip vermilion, Downslanted palpebral fissures, Abnormal facial shape, Coarse facial features, Absent speech, Abnormality of the tongue, Intellectual disability, severe, Kyphoscoliosis, Postaxial foot polydactyly, Thick lower lip vermilion, Short philtrum, Happy demeanor",0]
["180850, 610543, 613684","Rubinstein-Taybi Syndrome","y","26307339",204522,"CREBBP","NM_004380.2:c.4644_4646dupGTT",1,26,"Immunodeficiency, Short thumb, Short stature, Global developmental delay, Gastroesophageal reflux, Feeding difficulties in infancy, Failure to thrive, Patellar dislocation, Anemia, Broad toe, Broad thumb, Wide nasal bridge, Convex nasal ridge, Abnormality of the nasal septum, Abnormality of the knee, Specific learning disability, Long eyelashes, Sloping forehead, Micrognathia, Thrombocytopenia, Spatulate thumbs, Recurrent infections, Recurrent bronchopulmonary infections, Microcephaly, Cough, Abnormal cry",0]
["614608","Coffin-Siris Syndrome 3; CSS3","y","26364901, 23906836",144502,"SMARCB1","NM_003073.3:c.1121G>A",1,6,"Short finger, Short toe, Coarse facial features, Schwannoma, Wide mouth, Thick vermilion border",0]
["248340, 257920, 265050","3MC Syndrome","y","26419238",239793,"MASP1","NM_139125.3:c.1987G>T",1,15,"Hypertelorism, Highly arched eyebrow, Short stature, Ectopic anus, Downslanted palpebral fissures, Clitoral hypertrophy, Caudal appendage, Bilateral cleft lip and palate, Atrial septal defect, Neoplasm of the liver, Patent ductus arteriosus, Unilateral renal agenesis, Sacral dimple, Ptosis, Prominent coccyx",0]
["248340, 257920, 265050","3MC Syndrome","y","26419238",239773,"MASP1","NM_139125.3:c.1012-2A>G",1,6,"Hypertelorism, Highly arched eyebrow, Downslanted palpebral fissures, Caudal appendage, Abnormality of the umbilicus, Ptosis",0]
["248340, 257920, 265050","3MC Syndrome","y","26419238",239778,"MASP1","NM_139125.3:c.1657G>A",1,13,"Hypertelorism, Highly arched eyebrow, Short stature, Hearing impairment, Downslanted palpebral fissures, Clinodactyly of the 5th finger, Abnormality of the umbilicus, Median cleft lip and palate, Omphalocele, Spina bifida, Supernumerary nipple, Skull asymmetry, Ptosis",0]
["248340, 257920, 265050","3MC Syndrome 1; 3MC1","y","26419238",239776,"MASP1","NM_139125.3:c.891+1G>T",1,11,"Hypertelorism, Highly arched eyebrow, Short stature, Downslanted palpebral fissures, Abnormality of the umbilicus, Abnormality of the kidney, Abnormal anterior chamber morphology, Patent ductus arteriosus, Peters anomaly, Recurrent bronchiolitis, Ptosis",0]
["118450, 610205","Alagille Syndrome","y","26463753",224389,"JAG1","NM_000214.2:c.59T>G",1,15,"Hypercholesterolemia, Hyperbilirubinemia, Global developmental delay, Eruptive xanthomas, Elevated hepatic transaminases, Decreased liver function, Bulbous nose, Biliary tract obstruction, Intrauterine growth retardation, Prolonged neonatal jaundice, Oligohydramnios, Pointed chin, Peripheral pulmonary artery stenosis, Hyperalbuminemia, Upslanted palpebral fissure",0]
["118450","Alagille Syndrome 1; ALGS1","y","26463753",224388,"JAG1","NM_000214.2:c.59T>C",2,13,"Hyperbilirubinemia, Butterfly vertebrae, Bulbous nose, Abnormal vertebral morphology, Jaundice, Neonatal hyperbilirubinemia, Pointed chin, Renal cyst, Ventricular septal defect, Peripheral pulmonary artery stenosis, Upslanted palpebral fissure, Prominent forehead, Solitary renal cyst",0]
["268400","Rothmund-Thomson Syndrome; RTS","y","26515231",201846,"RECQL4","NM_004260.3:c.3283delGinsCC",1,12,"Postnatal growth retardation, Growth delay, Cognitive impairment, Failure to thrive, Facial edema, Erythema, Dermal atrophy, Depigmentation/hyperpigmentation of skin, Behavioral abnormality, Poikiloderma, Poor speech, Telangiectasia of the skin",0]
["305600","Focal Dermal Hypoplasia; FDH","y","26603014",243849,"PORCN","NM_203475.1:c.67C>T",1,24,"Short stature, Facial asymmetry, Split hand, Split foot, Dermal atrophy, Decreased body weight, Aggressive behavior, Abnormality of the pinna, Abnormality of the auditory canal, 3-4 finger syndactyly, Intellectual disability, severe, Low-set ears, Mandibular prognathia, Anteverted nares, Narrow nasal bridge, Oligodontia, Patchy alopecia, Pointed chin, Respiratory distress, Sparse hair, Unilateral microphthalmos, Microcephaly, Papilloma, Cleft lip",0]
["180850, 610543, 613684","Rubinstein-Taybi Syndrome","y","26603346",204499,"CREBBP","NM_004380.2:c.1066C>T",1,35,"Short foot, Short toe, Hypertelorism, Hyperreflexia, High palate, High, narrow palate, Global developmental delay, Expressive language delay, Agenesis of corpus callosum, Downslanted palpebral fissures, Ventriculomegaly, Difficulty standing, Motor delay, Congenital laryngeal stridor, Broad hallux, Broad thumb, Broad palm, Wide nasal bridge, Behavioral abnormality, Aggressive behavior, Abnormality of the palpebral fissures, Intellectual disability, moderate, Leukocytosis, Micrognathia, Narrow palate, Prolonged neonatal jaundice, Poor coordination, Recurrent infections, Proximal placement of thumb, Abnormality of coordination, Deviated nasal tip, Allergy, Small hand, Ptosis, Abasia",2,"Hypertonia, Hearing impairment"]
["117550, 614753","Sotos Syndrome","y","26613968",208673,"NSD1","NM_022455.4:c.4192+1del",1,19,"Hypermetropia, Hydroureter, Hydronephrosis, Highly arched eyebrow, Gastroesophageal reflux, Downslanted palpebral fissures, Ascending tubular aorta aneurysm, Inguinal hernia, Intellectual disability, moderate, Joint hypermobility, Long face, Narrow face, Redundant skin, Mandibular prognathia, Pectus carinatum, Pes planus, Deep-set nails, Prominent forehead, Megacystis",0]
["117550, 614753","Sotos Syndrome","y","26738611",208670,"NSD1","NM_022455.4:c.5841_5848dup",1,39,"Delayed speech and language development, Hypertelorism, Hypermetropia, High, narrow palate, Broad forehead, High anterior hairline, Frontal balding, Enterocolitis, Downslanted palpebral fissures, Dental crowding, Congenital hypothyroidism, Congenital horizontal nystagmus, Bilateral ptosis, Behavioral abnormality, Anxiety, Advanced ossification of the hand bones, Tall stature, Intention tremor, Intrauterine growth retardation, Long foot, Macrotia, Lymphedema, Maternal hypertension, Neonatal hypoglycemia, Prolonged neonatal jaundice, Obstructive sleep apnea, Optic nerve hypoplasia, Osteoarthritis, Osteoarthritis of the small joints of the hand, Pointed chin, Thoracic kyphoscoliosis, Small placenta, Abnormal bone ossification, Alopecia of scalp, Triangular face, Prominent forehead, Fetal distress, Abnormal temper tantrums, Severe temper tantrums",0]
["133540, 216400","Cockayne Syndrome","y","26749132",224285,"ERCC6","NM_000124.3:c.2800C>A",1,12,"Postnatal growth retardation, Microcephaly, Global developmental delay, Intention tremor, Gait ataxia, Polyneuropathy, Motor polyneuropathy, Proximal muscle weakness in lower limbs, Bilateral sensorineural hearing impairment, Hypermetropia, Reduced subcutaneous adipose tissue, Cutaneous photosensitivity",0]
["133540, 216400","Cockayne Syndrome","y","26749132",224286,"ERCC6","NM_000124.3:c.2808G>C",1,15,"Hypoplasia of dental enamel, Postnatal growth retardation, Febrile seizures, Developmental regression, Cutis laxa, Conical tooth, Carious teeth, Bilateral conductive hearing impairment, Progressive flexion contractures, Nystagmus, Thoracic kyphosis, Reduced subcutaneous adipose tissue, Microcephaly, Strabismus, Corneal opacity",0]
["235730","Mowat-Wilson Syndrome; MOWS","y","26852091",247621,"ZEB2","NM_014795.3:c.1784delC",1,7,"Hypertelorism, Global developmental delay, Low hanging columella, Aganglionic megacolon, Pointed chin, Seizures, Uplifted earlobe",0]
["270400","Smith-Lemli-Opitz Syndrome; SLOS","y","26969503",207510,"DHCR7","NM_001360.2:c.521T>C, NM_001360.2:c.724C>T",1,16,"Hypertelorism, Short stature, Growth delay, Generalized hypotonia, Epicanthus, Postnatal microcephaly, Wide nasal bridge, Bilateral single transverse palmar creases, Bilateral ptosis, 2-3 toe syndactyly, Anteverted nares, Patent foramen ovale, Posteriorly rotated ears, Proximal placement of thumb, Mild global developmental delay, Microcephaly",1,"Intrauterine growth retardation"]
["612292","Birk-Barel Mental Retardation Dysmorphism Syndrome","y","27151206",240593,"KCNK9","NM_016601.2:c.706G>A",1,19,"Generalized neonatal hypotonia, Short thumb, Short foot, Global developmental delay, Fatigable weakness, Feeding difficulties in infancy, Elevated serum creatine phosphokinase, Easy fatigability, Downturned corners of mouth, Clonus, Cleft palate, Broad alveolar ridges, Intention tremor, Micrognathia, Muscle weakness, Patent foramen ovale, Phimosis, Sacral dimple, Thin upper lip vermilion",0]
["612292","Birk-Barel Mental Retardation Dysmorphism Syndrome","y","27151206",240586,"KCNK9","NM_016601.2:c.706G>C",1,34,"Delayed speech and language development, Hypoglycemia, Hyperinsulinemia, Global developmental delay, Generalized hypotonia, Gastroesophageal reflux, Frontal upsweep of hair, Expressive language delay, Small for gestational age, Dolichocephaly, Decreased lacrimation, Clonus, Cleft soft palate, Cleft palate, Broad eyebrow, Bridged palmar crease, Intrauterine growth retardation, Joint laxity, Kyphoscoliosis, Tapered finger, Medial flaring of the eyebrow, Micrognathia, Narrow forehead, Neonatal hypoglycemia, Oligohydramnios, Poor suck, Retrognathia, Prominent fingertip pads, Central hypotonia, Gastrostomy tube feeding in infancy, Short philtrum, Tented upper lip vermilion, Cleft hard palate, Feeding difficulties",0]
["119600","Cleidocranial Dysplasia; CCD","y","27177937",208700,"RUNX2","NM_001024630.3:c.470dup",2,20,"Short toe, Short stature, Downslanted palpebral fissures, Brachydactyly, 2-3 toe cutaneous syndactyly, Abnormal facial shape, Clinodactyly of the 5th finger, Broad toe, Broad thumb, Brachycephaly, Aplasia/Hypoplasia of the clavicles, Abnormality of the anterior fontanelle, Tapered finger, Metopic depression, Narrow chest, Persistent open anterior fontanelle, Down-sloping shoulders, Small hand, Telecanthus, Midface retrusion",0]
["243310, 614583","Baraitser-Winter Syndrome 2; BRWS2","y","27240540",240522,"ACTG1","NM_001614.3:c.766C>T",1,15,"Delayed speech and language development, Global developmental delay, Epicanthus, Agenesis of corpus callosum, Small for gestational age, Dilation of lateral ventricles, Motor delay, Broad nasal tip, Muscular hypotonia, Anteverted nares, Short nose, Pachygyria, Perivascular spaces, Thin upper lip vermilion, Feeding difficulties",0]
["243310, 614583","Baraitser-Winter Syndrome 2; BRWS2","y","27240540",240531,"ACTG1","NM_001614.3:c.1004G>A",1,18,"Delayed speech and language development, Hypertelorism, Hearing impairment, Full cheeks, Ventriculomegaly, Broad nasal tip, Abnormal cortical gyration, Long palpebral fissure, Long philtrum, Anteverted nares, Short nose, Pointed chin, Wide mouth, Retrognathia, Prominent nasal tip, Prominent metopic ridge, Thin upper lip vermilion, Telecanthus",0]
["243310, 614583","Baraitser-Winter Syndrome 2; BRWS2","y","27240540",240512,"ACTG1","NM_001614.3:c.760C>T",1,22,"Small for gestational age, Highly arched eyebrow, Telecanthus, Ptosis, Epicanthus, Anteverted nares, Short nose, Broad nasal tip, Full cheeks, Thin upper lip vermilion, Wide mouth, Pointed chin, Protruding ear, Abnormality of the sternum, Pachygyria, Global developmental delay, Hypertelorism, Long philtrum, Motor delay, Hyperacusis, Delayed speech and language development, Expressive language delay",0]
["243310, 614583","Baraitser-Winter Syndrome 2; BRWS2","y","27240540",240517,"ACTG1","NM_001614.3:c.766C>T",1,18,"Inability to walk, Delayed speech and language development, Highly arched eyebrow, Short stature, Global developmental delay, Full cheeks, Expressive language delay, Dilation of lateral ventricles, Broad nasal tip, Thick corpus callosum, Pachygyria, Pointed chin, Wide mouth, Protruding ear, Perivascular spaces, Thin upper lip vermilion, Telecanthus, Ptosis",0]
["616938","Coffin-Siris Syndrome 5; CSS5","y","27264197, 23929686",144521,"SMARCE1","NM_003079.4:c.314G>A",1,11,"Hypoplastic fingernail, Hyperactivity, Horizontal eyebrow, High palate, Global developmental delay, Downslanted palpebral fissures, Bulbous nose, Low anterior hairline, Low-set ears, Trigonocephaly, Sparse scalp hair",0]
["176670","Hutchinson-Gilford Progeria Syndrome; HGPS","y","27267192",226356,"LMNA","NM_170707.3:c.1824C>T",1,14,"Short stature, Global developmental delay, Failure to thrive, Cyanosis, Skeletal muscle atrophy, Abnormality of skin pigmentation, Knee flexion contracture, Pes planus, Tricuspid regurgitation, Prominent superficial blood vessels, Pes valgus, Proptosis, Sparse scalp hair, Midface retrusion",0]
["123500","Crouzon Syndrome","y","27430617",202062,"FGFR2","NM_000141.4:c.811_812insGAG",1,7,"Exotropia, Craniosynostosis, Convex nasal ridge, Shallow orbits, Strabismus, Proptosis, Midface retrusion",0]
["255800","Schwartz-Jampel Syndrome, Type 1; SJS1","y","27521129",246144,"HSPG2","NM_005529.5:c.4740+5G>A",1,14,"Hemifacial spasm, Elbow flexion contracture, EMG: myotonic discharges, Myotonia, Broad-based gait, Blepharophimosis, Knee flexion contracture, Low-set ears, Metaphyseal widening, Muscle stiffness, Pes planus, Pursed lips, Reduced bone mineral density, Anterior wedging of L2",2,"Neonatal hypotonia, Vertebral clefting"]
["617159","Sifrim-Hitz-Weiss syndrome; SIHIWES","y","27616479",245514,"CHD4","NM_001273.2:c.3380G>A",1,8,"Hypogonadotrophic hypogonadism, Hypertelorism, Hearing impairment, Global developmental delay, Cryptorchidism, Intellectual disability, Micropenis, Macrocephaly",0]
["617159","Sifrim-Hitz-Weiss syndrome; SIHIWES","y","27616479",249639,"CHD4","NM_001273.2:c.3518G>T",1,11,"Hypertelorism, Hearing impairment, Global developmental delay, Fused cervical vertebrae, Dilation of lateral ventricles, Cupped ear, Arnold-Chiari type I malformation, Intellectual disability, Low-set ears, Macrocephaly, Square face",0]
["601358","Nicolaides-Baraitser Syndrome; NCBRS","y","27665729",212652,"SMARCA2","NM_003070.3:c.3721C>G",2,24,"Impaired use of nonverbal behaviors, Impaired social interactions, Delayed speech and language development, Cognitive impairment, Global developmental delay, Generalized tonic-clonic seizures, Frontal balding, Eczema, Autism, Absence seizures, Abnormality of upper lip vermillion, Abnormality of the nasal tip, Specific learning disability, Long philtrum, Myoclonic atonic seizures, Stereotypy, Autistic behavior, Thin vermilion border, Widened distal phalanges, Thick nasal alae, EEG with generalized polyspikes, Abnormal social behavior, Delayed social development, Premature skin wrinkling",0]
["130720","Lateral Meningocele Syndrome; LMNS","y","27911244",229697,"NOTCH3","NM_000435.2:c.6659_6660delAG",1,21,"Kyphosis, High forehead, Hemivertebrae, Smooth philtrum, Failure to thrive, Dysphagia, Dolichocephaly, Aspiration, Arnold-Chiari malformation, Intestinal malrotation, Low-set, posteriorly rotated ears, Meningocele, Micrognathia, Thickened nuchal skin fold, Recurrent respiratory infections, Aspiration pneumonia, Thin upper lip vermilion, Telecanthus, Ptosis, Midface retrusion, Recurrent gastroenteritis",0]
["268400","Rothmund-Thomson Syndrome; RTS","y","28039508",201226,"RECQL4","NM_004260.3:c.1048_1049delAG, NM_004260.3:c.1391-1G>A",1,22,"Hyperpigmented/hypopigmented macules, Cognitive impairment, Absent eyelashes, Delayed skeletal maturation, Celiac disease, Alopecia areata, Absent eyebrow, Abnormality of the skeletal system, 2-3 toe syndactyly, Increased susceptibility to fractures, Meningitis, Myxoid subcutaneous tumors, Osteoma, Osteoporosis, Patellar hypoplasia, Poikiloderma, Recurrent fractures, Pseudoarthrosis, Sparse hair, Small hand, Osteoma cutis, Calcinosis cutis",0]
["300624","Fragile X Mental Retardation Syndrome","y","28176767",249867,"FMR1","NM_002024.5:c.420-8A>G",6,16,"Infantile axial hypotonia, Global developmental delay, Expressive language delay, Motor delay, Clinodactyly of the 5th finger, Anxiety, Intellectual disability, Long face, Stereotypy, Repetitive compulsive behavior, Maternal teratogenic exposure, Stereotypical body rocking, Recurrent hand flapping, Strabismus, Clinodactyly, Clinodactyly of the 3rd finger",0]
["303600","Coffin-Lowry Syndrome; CLS","y","28190284",249874,"RPS6KA3","NM_004586.2:c.328C>T",1,30,"Hydrocephalus, High forehead, Broad forehead, Short stature, Global developmental delay, Generalized hypotonia, Depressed nasal bridge, Expressive language delay, Everted upper lip vermilion, Everted lower lip vermilion, Downslanted palpebral fissures, Broad palm, Wide nasal bridge, Broad femoral neck, Abnormality of the foramen magnum, Abnormality of the anterior fontanelle, Abnormality of skull size, Macrotia, Long philtrum, Tapered finger, Microretrognathia, Anteverted nares, Short sacroiliac notch, Wide anterior fontanel, Protruding ear, Short palm, Relative macrocephaly, Thick vermilion border, Macrocephaly, Telecanthus",0]
["610954","Pitt-Hopkins Syndrome; PTHS","y","28807867",213752,"TCF4","NM_001083962.1:c.520C>T",1,14,"Impulsivity, Delayed speech and language development, Hyperactivity, Gait ataxia, Exotropia, Motor delay, Constipation, Broad-based gait, Abnormality of the corpus callosum, Stereotypy, Wide mouth, Widely spaced teeth, Prominent digit pad, Self-biting",0]
["243310, 614583","Baraitser-Winter Syndrome 1; BRWS1","y","29024830",240466,"ACTB","NM_001101.3:c.1092_1105dup",9,23,"Delayed speech and language development, Short stature, Postnatal growth retardation, Global developmental delay, Ectopia pupillae, Small for gestational age, Motor delay, Decreased body weight, Abnormal toenail morphology, Abnormality of the elbow, Thick corpus callosum, Abnormal iris pigmentation, 2-3 toe syndactyly, Intrauterine growth retardation, Long eyelashes, Maternal diabetes, Maternal hypertension, Overlapping toe, Sacral dimple, Proportionate short stature, Thin upper lip vermilion, Synophrys, Thin lower lip vermilion",0]
["102370","Acromicric Dysplasia","y","29191498",240049,"FBN1","NM_000138.4:c.5284G>A",2,17,"Delayed speech and language development, Hepatomegaly, Short stature, Brachydactyly, Coarse facial features, Bulbous nose, Wide nasal bridge, Abnormal mitral valve morphology, J-shaped sella turcica, Joint stiffness, Lumbar hyperlordosis, Mitral regurgitation, Tip-toe gait, Stiff interphalangeal joints, Proximal tapering of metacarpals, Thick lower lip vermilion, Thick upper lip vermilion",0]
["235730","Mowat-Wilson Syndrome; MOWS","y","29300384, 19215041",212788,"ZEB2","NM_014795.3:c.2083C>T",1,5,"Constipation, Intellectual disability, severe, Patent ductus arteriosus, Periventricular gray matter heterotopia, Seizures",0]
["200990","Acrocallosal Syndrome; ACLS","y","29321670",224010,"KIF7","NM_198525.2:c.423_443delACATGT",1,27,"Hypertelorism, High, narrow palate, Broad forehead, Global developmental delay, Depressed nasal bridge, Epicanthus, Agenesis of corpus callosum, Downslanted palpebral fissures, Cyanotic episode, Wide nasal bridge, Abnormality of the pinna, Intellectual disability, severe, Lymphoma, Muscular hypotonia, Nystagmus, Toe syndactyly, Duplication of phalanx of hallux, Postaxial polydactyly, Posteriorly rotated ears, Seizures, Recurrent respiratory infections, Relative macrocephaly, Respiratory infections in early life, High myopia, Strabismus, Prominent forehead, Mild microcephaly",0]
["101400","Saethre-Chotzen Syndrome; SCS","y","8988166",249706,"TWIST1","NM_000474.3:c.356A>C",1,9,"Hypoplasia of the maxilla, High forehead, Facial asymmetry, Brachydactyly, Dental crowding, Clinodactyly of the 5th finger, Low anterior hairline, Prominent crus of helix, Ptosis",0]
["305400","Aarskog Syndrome","y",null,116316,"FGD1","NM_004463.2:c.1590T>A",1,11,"Hypertelorism, Diastasis recti, Capillary hemangiomas, Bilateral single transverse palmar creases, Inguinal hernia, Specific learning disability, Metatarsus adductus, Shawl scrotum, Thin vermilion border, Short attention span, Camptodactyly of finger",0]
["305400","Aarskog Syndrome","y",null,114026,"FGD1","NM_004463.2:c.1519C>G",1,11,"Hypertelorism, Short stature, Cognitive impairment, Exaggerated cupid's bow, Lower limb hypertonia, Metatarsus adductus, Anteverted nares, Shawl scrotum, Single transverse palmar crease, Umbilical hernia, Ptosis",0]
["305400","Aarskog Syndrome","y",null,51537,"FGD1","NM_004463.2:c.1143_1145del",1,40,"Hypospadias, Hypertelorism, Hyperopic astigmatism, High forehead, Broad forehead, Growth delay, Frontal upsweep of hair, Downslanted palpebral fissures, Malar flattening, Delayed cranial suture closure, Clinodactyly of the 5th finger, Broad uvula, Broad palm, Wide nasal bridge, Broad eyebrow, Lacrimal duct stenosis, Bifid uvula, Amblyopia, Abnormality of upper lip, Abnormality of the testis, Abnormal eyebrow morphology, Infantile muscular hypotonia, Sparse lateral eyebrow, Long palpebral fissure, Long philtrum, Long uvula, Lower lip pit, Microretrognathia, Mild short stature, Narrow mouth, Overfolded helix, Shawl scrotum, Retrognathia, Thickened helices, Single transverse palmar crease, Syndactyly, Sandal gap, Talipes, Short nasal bridge, Short palm",0]
["200990","Acrocallosal Syndrome; ACLS","y",null,65213,"KIF7","NM_198525.2:c.434A>C",12,15,"Downslanted palpebral fissures, Ventriculomegaly, Ataxia, Attention deficit hyperactivity disorder, Abnormality of eye movement, Neonatal hypotonia, Nystagmus, Postaxial hand polydactyly, Postaxial foot polydactyly, Seizures, Spasticity, Preaxial foot polydactyly, Strabismus, Ptosis, Neurodevelopmental delay",0]
["118450, 610205","Alagille Syndrome","y",null,35305,"JAG1","NM_000214.2:c.550C>T",1,18,"Broad forehead, Depressed nasal bridge, Deeply set eye, Posterior embryotoxon, Downslanted palpebral fissures, Brachycephaly, Abnormal ventricular septum morphology, Abnormality of the seventh cranial nerve, Abnormality of the intrahepatic bile duct, Abnormal form of the vertebral bodies, Inguinal hernia, Jaundice, Long fingers, Long toe, Neonatal cholestatic liver disease, Pulmonary artery stenosis, Microcephaly, Short chin",0]
["605039","Bohring-Opitz Syndrome; BOPS","y",null,16038,"ASXL1","NM_015338.5:c.2416_2417dupAC",1,13,"Hirsutism, Highly arched eyebrow, Generalized seizures, Generalized hypotonia, Cerebral palsy, Broad eyebrow, Insulin resistance, Intellectual disability, Intellectual disability, severe, Scoliosis, Thick lower lip vermilion, Thick upper lip vermilion, Ptosis",0]
["605039","Bohring-Opitz Syndrome; BOPS","y",null,231751,"ASXL1","NM_015338.5:c.1162_1163delGT",1,20,"Visual impairment, Hypertelorism, High palate, Global developmental delay, Full cheeks, Depressed nasal bridge, Feeding difficulties in infancy, Facial hypotonia, Wide nasal bridge, Intrauterine growth retardation, Low-set ears, Micrognathia, Seizures, Ulnar deviation of the wrist, Sleep apnea, Central hypotonia, Thick hair, Microcephaly, Synophrys, Feeding difficulties",0]
["214800","Charge Syndrome","y",null,107832,"CHD7","NM_017780.3:c.2520G>A",1,11,"Global developmental delay, Facial palsy, Conductive hearing impairment, Congenital hip dislocation, Choanal stenosis, Abnormality of the ear, Torticollis, Seizures, Ventricular septal defect, Thoracic kyphosis, Pulmonary artery stenosis",0]
["214800","Charge Syndrome","y",null,34394,"CHD7","NM_017780.3:c.5458C>T",1,18,"Hypertelorism, Hydrocephalus, Short stature, Hearing impairment, Feeding difficulties in infancy, Esophageal atresia, Cupped ear, Cleft upper lip, Cleft palate, Polyhydramnios, Wide nose, Brachycephaly, Iris coloboma, Short neck, Seizures, Tetralogy of Fallot, Microcephaly, Abnormality of cardiovascular system morphology",0]
["214800","Charge Syndrome","y",null,107833,"CHD7","NM_017780.3:c.2520G>A",1,9,"Hypoplasia of the capital femoral epiphysis, Global developmental delay, Facial palsy, Cupped ear, Cryptorchidism, Atrial septal defect, Micropenis, Ventricular septal defect, Mild hearing impairment",0]
["214800","Charge Syndrome","y",null,35311,"CHD7","NM_017780.3:c.635delA",1,13,"Hypertelorism, Hearing impairment, Global developmental delay, Smooth philtrum, Facial palsy, Chorioretinal coloboma, Asymmetric crying face, Abnormality of the pinna, Abnormality of the columella, Laryngomalacia, Micropenis, Muscular hypotonia, Feeding difficulties",0]
["214800","Charge Syndrome","y",null,107824,"CHD7","NM_017780.3:c.2442+5G>C",14,9,"Bilateral cryptorchidism, Bilateral cleft lip and palate, Abnormality of the sense of smell, Intellectual disability, mild, Micropenis, Autistic behavior, Absent earlobe, Mild hearing impairment, Severe hearing impairment",0]
["119600","Cleidocranial Dysplasia; CCD","y",null,45148,"RUNX2","NM_001015051.3:c.738C>T",1,8,"Short finger, Short toe, High forehead, Short stature, Delayed eruption of teeth, Large fontanelles, Midclavicular hypoplasia, Toenail dysplasia",0]
["119600","Cleidocranial Dysplasia; CCD","y",null,45147,"RUNX2","NM_001015051.3:c.738C>T",5,5,"Short clavicles, Short stature, Delayed closure of the anterior fontanelle, Persistence of primary teeth, Recurrent infections",0]
["133540, 216400","Cockayne Syndrome","y",null,62286,"ERCC6","NM_000124.3:c.1589T>C",1,13,"Hearing impairment, Failure to thrive, Delayed eruption of teeth, Delayed eruption of primary teeth, Congenital muscular torticollis, Cataract, Carious teeth, Intrauterine growth retardation, Knee flexion contracture, Lipodystrophy, Reduced subcutaneous adipose tissue, Microcephaly, Feeding difficulties",0]
["303600","Coffin-Lowry Syndrome; CLS","y",null,158955,"RPS6KA3","NM_004586.2:c.455G>A",1,5,"Postnatal growth retardation, Generalized joint laxity, Narrow mouth, Mild global developmental delay, Macrocephaly",0]
["303600","Coffin-Lowry Syndrome; CLS","y",null,66443,"RPS6KA3","NM_004586.2:c.1959+2dup",2,2,"Global developmental delay, Febrile seizures",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome","y",null,73413,"ARID1B","NM_017519.2:c.1747C>T",1,5,"Hypertrichosis, Global developmental delay, Agenesis of corpus callosum, Nail dysplasia, Neonatal hypotonia",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome","y",null,65229,"ARID1B","NM_020732.3:c.3444del",1,12,"Delayed speech and language development, Hypertrichosis, Global developmental delay, Fine hair, Bilateral cryptorchidism, Atrial septal defect, Arnold-Chiari type I malformation, Intellectual disability, Neurological speech impairment, Recurrent upper respiratory tract infections, Strabismus, Sparse scalp hair",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome","y",null,121651,"ARID1B","NM_020732.3:c.3304C>T",1,23,"Delayed speech and language development, Hypothyroidism, Hearing impairment, Downslanted palpebral fissures, Congenital megaureter, Clinodactyly of the 5th finger, Cleft palate, Brachycephaly, Abnormality of the pinna, Low anterior hairline, Low-set, posteriorly rotated ears, Microdontia, Muscular hypotonia, Myopia, Wide mouth, Widely spaced teeth, Seizures, Sandal gap, Severe global developmental delay, Dry hair, Hypoplastic fifth toenail, Allergy, Thin upper lip vermilion",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome","y",null,121656,"ARID1B","NM_020732.3:c.3323_3324delAA",1,10,"Hypertrichosis, Long toe, Low-set, posteriorly rotated ears, Microretrognathia, Muscular hypotonia, Myopia, Prominent nasal tip, Mild global developmental delay, Thin upper lip vermilion, Frontal bossing",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome 2; CSS2","y",null,144387,"ARID1A","NM_006015.4:c.4003C>T",1,17,"Hypoplastic fifth fingernail, Hyperactivity, High palate, Generalized hypertrichosis, Wide nasal bridge, Atrial septal defect, Absent speech, Kyphoscoliosis, Long eyelashes, Long philtrum, Recurrent infections, Severe global developmental delay, Hypoplastic fifth toenail, Thick lower lip vermilion, Thick eyebrow, Sparse scalp hair, Feeding difficulties",0]
["614608","Coffin-Siris Syndrome 3; CSS3","y",null,144417,"SMARCB1","NM_003073.3:c.1091_1093del",1,26,"Short 5th finger, Hypoplastic fifth fingernail, Hydroureter, Hydronephrosis, Gastroesophageal reflux, Bladder diverticulum, Absent speech, Inguinal hernia, Long eyelashes, Muscular hypotonia, Vesicoureteral reflux, Seizures, Umbilical hernia, Scoliosis, Recurrent infections, Prominent interphalangeal joints, Severe global developmental delay, Short 5th toe, Hypoplastic fifth toenail, Thin upper lip vermilion, Broad philtrum, Short philtrum, Ptosis, Thick eyebrow, Sparse scalp hair, Feeding difficulties",0]
["614608","Coffin-Siris Syndrome 3; CSS3","y",null,144386,"SMARCB1","NM_003073.3:c.1091_1093delAGA",1,16,"Hypoplastic fifth fingernail, Generalized hypertrichosis, Wide nasal bridge, Absent speech, Long eyelashes, Long philtrum, Muscular hypotonia, Seizures, Scoliosis, Recurrent infections, Sparse hair, Severe global developmental delay, Hypoplastic fifth toenail, Thick lower lip vermilion, Thin upper lip vermilion, Thick eyebrow",0]
["614608","Coffin-Siris Syndrome 3; CSS3","y",null,144416,"SMARCB1","NM_003073.3:c.1091_1093del",1,31,"Gastrostomy tube feeding in infancy, Feeding difficulties, Sparse scalp hair, Hypertrichosis, Thick eyebrow, Long eyelashes, Ptosis, Wide nasal bridge, Broad philtrum, Thick upper lip vermilion, Thick lower lip vermilion, High palate, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Aplasia/Hypoplasia of the nails, Scoliosis, Dextrocardia, Gastroesophageal reflux, Pyloric stenosis, Cryptorchidism, Hiatus hernia, Inguinal hernia, Visual impairment, Amblyopia, Recurrent infections, Muscular hypotonia, Seizures, Abnormality of the corpus callosum, Severe global developmental delay, Poor speech, Hyperactivity",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",null,45254,"ARID1B","NM_020732.3:c.5737C>T",1,18,"Hypopigmentation of the skin, Elbow hypertrichosis, Hypertrichosis, Horizontal eyebrow, Full cheeks, Facial hypertrichosis, Broad thumb, Abnormality of the philtrum, Nevus, Low anterior hairline, Low posterior hairline, Muscular hypotonia, Soft, doughy skin, Unilateral strabismus, Lumbar hypertrichosis, Thick lower lip vermilion, Thick eyebrow, Retractile testis",0]
["135900","Coffin-Siris Syndrome1; CSS1","y",null,54755,"ARID1B","NM_020732.3:c.3586dupC",1,6,"EEG abnormality, Cryptorchidism, Behavioral abnormality, Aplasia/Hypoplasia of the corpus callosum, Intellectual disability, profound, Myopia",0]
["135900, 614607, 614608, 614609, 616938","Coffin-Siris Syndrome1; CSS1","y",null,47460,"ARID1B","NM_020732.3:c.6174dup",1,16,"Hypertrichosis, Hypermetropia, Short stature, Global developmental delay, Excessive salivation, Epicanthus, Wide nasal bridge, Advanced eruption of teeth, Long eyelashes, Low anterior hairline, Muscular hypotonia, Anteverted nares, Short nose, Stereotypy, Recurrent otitis media, Narrow palpebral fissure",0]
["135900","Coffin-Siris Syndrome1; CSS1","y",null,53353,"ARID1B","NM_020732.3:c.3135G>A",1,11,"Hypertrichosis, Small for gestational age, Decreased body weight, Intellectual disability, severe, Long fingers, Oligohydramnios, Thin vermilion border, Slender finger, Secundum atrial septal defect, Reduced subcutaneous adipose tissue, Sparse scalp hair",0]
["135900","Coffin-Siris Syndrome1; CSS1","y",null,38553,"ARID1B","NM_020732.3:c.3550+1G>A",1,5,"Global developmental delay, Generalized hypotonia, Coarse facial features, Mild short stature, Myopia",0]
["216550","Cohen Syndrome; COH1","y",null,155433,"VPS13B","NM_017890.4:c.7603C>T",1,12,"Visual impairment, Delayed puberty, Intellectual disability, Myopia, Obesity, Open mouth, Absent earlobe, Widow's peak, High myopia, Microcephaly, Thick eyebrow, Delayed menarche",0]
["122470, 300590, 300882, 610759, 614701","Cornelia De Lange Syndrome","y",null,45260,"ANKRD11","NM_001256183.1:c.5483C>A",1,31,"Short thumb, Hypertrichosis, Hypertonia, Short stature, Depressed nasal ridge, Abnormal eating behavior, Brachydactyly, Decreased body weight, Broad eyebrow, Brachycephaly, Absent middle phalanx of 5th finger, Aggressive behavior, Absent cupid's bow, Abnormally low-pitched voice, Abnormality of the helix, Abnormality of pain sensation, Intellectual disability, Long eyelashes, Long philtrum, Low posterior hairline, Overbite, Retrognathia, Short neck, Widely-spaced maxillary central incisors, Sleep disturbance, Thin upper lip vermilion, Microcephaly, Short chin, Thick eyebrow, Synophrys, Abnormal drinking behavior",0]
["122470, 300590, 300882, 610759, 614701","Cornelia De Lange Syndrome","y",null,66964,"HDAC8","NM_001166419.1:c.496C>T",1,13,"Delayed speech and language development, Short 5th finger, Highly arched eyebrow, Global developmental delay, Clinodactyly of the 5th toe, Abnormal facial shape, Intrauterine growth retardation, Low anterior hairline, Low posterior hairline, Clinodactyly of the 4th toe, Microcephaly, Synophrys, Sparse scalp hair",0]
["122470, 300590, 300882, 610759, 614701","Cornelia De Lange Syndrome","y",null,164096,"RAD21","NM_006265.2:c.943_946del",1,4,"Delayed speech and language development, Astigmatism, Myopia, Microcephaly",0]
["122470, 300590, 300882, 610759, 614701","Cornelia De Lange Syndrome","y",null,158499,"HDAC8","NM_018486.2:c.1112-5_1115delTGCAGGGAA",3,1,"Cognitive impairment",0]
["304110","Craniofrontonasal Syndrome; CFNS","y",null,34223,"EFNB1","NM_004429.4:c.102-103dup",1,13,"Hypoplastic toenails, Hypertelorism, High palate, Dysplastic corpus callosum, Downslanted palpebral fissures, Coronal craniosynostosis, Broad nasal tip, Broad hallux, Broad thumb, Wide nose, Single transverse palmar crease, Prominent forehead, Midface retrusion",0]
["123500","Crouzon Syndrome","y",null,40636,"FGFR2","NM_000141.4:c.1025G>C",1,13,"Hypertelorism, Depressed nasal tip, Flat occiput, Facial asymmetry, Downslanted palpebral fissures, Craniosynostosis, Choanal stenosis, Broad hallux, Broad thumb, Brachyturricephaly, Micrognathia, Short upper lip, Proptosis",0]
["123500","Crouzon Syndrome","y",null,97169,"FGFR2","NM_000141.4:c.943G>T",1,4,"Broad forehead, Mandibular prognathia, Misalignment of teeth, Midface retrusion",0]
["123500","Crouzon Syndrome","y",null,97199,"FGFR2","NM_000141.4:c.943G>T",1,6,"Hypertelorism, Broad forehead, Iris coloboma, Mandibular prognathia, Misalignment of teeth, Midface retrusion",0]
["123500","Crouzon Syndrome","y",null,51699,"FGFR2","NM_001144917.1:c.812G>T",1,22,"Hypoplasia of the maxilla, Hypertelorism, Broad forehead, Downslanted palpebral fissures, Diplopia, Motor delay, Craniosynostosis, Congenital nystagmus, Convex nasal ridge, Abnormal eyebrow morphology, Abnormal shape of the frontal region, Laryngeal obstruction, Low-set ears, Stereotypy, Recurrent upper respiratory tract infections, Sagittal craniosynostosis, Strabismus, Proptosis, Synophrys, Prominent forehead, Sleep terror, Scaphocephaly",0]
["123500","Crouzon Syndrome","y",null,97814,"FGFR2","NM_000141.4:c.755C>T",1,8,"Hypoplasia of the maxilla, 2-3 toe syndactyly, Mandibular prognathia, Short upper lip, Single transverse palmar crease, Short philtrum, Proptosis, Midface retrusion",0]
["123500","Crouzon Syndrome","y",null,52650,"FGFR2","NM_001144916.1:c.1026C>G",1,18,"Underdeveloped supraorbital ridges, Hypertelorism, Hydrocephalus, Encephalocele, Craniosynostosis, Attached earlobe, Arnold-Chiari type I malformation, Abnormality of the midface, Abnormal shape of the occiput, Increased intracranial pressure, Multiple suture craniosynostosis, Narrow mouth, Posteriorly rotated ears, Talipes calcaneovalgus, Thin upper lip vermilion, Proptosis, Prominent forehead, Abnormality of the frontal bone",0]
["123500","Crouzon Syndrome","y",null,49352,"FGFR2","NM_000141.4:c.943G>T",1,9,"Hypertelorism, Broad forehead, Facial asymmetry, Dental malocclusion, Choanal stenosis, Apnea, Misalignment of teeth, Proptosis, Midface retrusion",0]
["123500","Crouzon Syndrome","y",null,97176,"FGFR2","NM_000141.4:c.943G>T",1,7,"Hypertelorism, Broad forehead, Facial asymmetry, Dental malocclusion, Mandibular prognathia, Misalignment of teeth, Midface retrusion",0]
["123500","Crouzon Syndrome","y",null,97147,"FGFR2","NM_000141.4:c.943G>T",1,3,"Mandibular prognathia, Misalignment of teeth, Midface retrusion",0]
["300624","Fragile X Mental Retardation Syndrome","y",null,44369,"FMR1","NM_002024.5:c.911T>A",1,12,"Inappropriate laughter, Hyperactivity, Global developmental delay, Fine hair, Astigmatism, Absent cupid's bow, Abnormal fear/anxiety-related behavior, Macrotia, Long face, Mutism, Lumbar hypertrichosis, Synophrys",0]
["147920, 300867","Kabuki Syndrome","y",null,52151,"KMT2D","NM_003482.3:c.11157dup",1,38,"Delayed speech and language development, Hypospadias, Hypertelorism, Hyperextensibility of the finger joints, Horseshoe kidney, Highly arched eyebrow, Eversion of lateral third of lower eyelids, Epicanthus, Motor delay, Broad nasal tip, Wide nasal bridge, Blue sclerae, Atrial septal defect, Abnormality of the pinna, Abnormal eyebrow morphology, 11 pairs of ribs, Intellectual disability, mild, Long palpebral fissure, Low-set, posteriorly rotated ears, Muscular hypotonia, Patent foramen ovale, Poor suck, Anterior creases of earlobe, Prominent antihelix, Small earlobe, Protruding ear, Thickened nuchal skin fold, Sacral dimple, Prominent fingertip pads, Short columella, Short nasal bridge, Microcephaly, Upslanted palpebral fissure, Dimple chin, Prominent stem of antihelix, Broad chin, Neonatal asphyxia, Fullness of paranasal tissue",0]
["147920, 300867","Kabuki Syndrome","y",null,19274,"KMT2D","NM_003482.3:c.8311C>T",1,10,"Ectopic kidney, Intellectual disability, mild, Preauricular pit, Neonatal hypotonia, Sensorineural hearing impairment, Sacral dimple, Redundant neck skin, Nasogastric tube feeding in infancy, Submucous cleft soft palate, Tented upper lip vermilion",0]
["147920, 300867","Kabuki Syndrome","y",null,44698,"KMT2D","NM_003482.3:c.16412+1G>T",1,12,"Hypodontia, Global developmental delay, Generalized hypotonia, Cleft palate, Blue sclerae, Skeletal muscle atrophy, Abnormality of the pinna, Abnormality of the 2nd toe, Long eyelashes, Long palpebral fissure, Tetralogy of Fallot, Sparse hair",0]
["147920, 300867","Kabuki Syndrome","y",null,34228,"KMT2D","NM_003482.3:c.9579_9597del",1,13,"Horseshoe kidney, Highly arched eyebrow, High palate, Global developmental delay, Feeding difficulties in infancy, Long eyelashes, Long palpebral fissure, Muscular hypotonia, Retrognathia, Prominent fingertip pads, Wide intermamillary distance, Nasogastric tube feeding in infancy, Anteverted ears",0]
["147920, 300867","Kabuki Syndrome","y",null,18166,"KMT2D","NM_003482.3:c.5278A>T",1,14,"Horseshoe kidney, Highly arched eyebrow, Short stature, Feeding difficulties in infancy, Eversion of lateral third of lower eyelids, Coloboma, Aplasia/Hypoplasia of the skin, Abnormality iris morphology, Abnormality of the fingertips, Iris coloboma, Sparse lateral eyebrow, Retinal coloboma, Skin tags, Sparse and thin eyebrow",0]
["147920, 300867","Kabuki Syndrome","y",null,19272,"KMT2D","NM_003482.3:c.9223dupT",1,11,"Hearing impairment, Cupped ear, Chorioretinal coloboma, Atrial septal defect, Intellectual disability, mild, Long palpebral fissure, Sacral dimple, Prominent fingertip pads, Ventricular septal defect, Unilateral ptosis, Premature thelarche",0]
["147920, 300867","Kabuki Syndrome","y",null,46693,"KMT2D","NM_003482.3:c.1273C>T",1,12,"Short finger, Hypertelorism, Dystrophic toenail, Dystrophic fingernails, Broad thumb, Wide nasal bridge, Brachycephaly, Sparse lateral eyebrow, Long palpebral fissure, Renal duplication, Renal dysplasia, Redundant neck skin",0]
["147920, 300867","Kabuki Syndrome","y",null,32705,"KMT2D","NM_003482.3:c.5869G>T",1,5,"Cleft palate, Long palpebral fissure, Pelvic kidney, Microcephaly, Sparse and thin eyebrow",0]
["147920, 300867","Kabuki Syndrome","y",null,45266,"KMT2D","NM_003482.3:c.15834delT",1,21,"Horseshoe kidney, Highly arched eyebrow, Short stature, Global developmental delay, Full cheeks, Flat forehead, Failure to thrive, Epicanthus, Congenital diaphragmatic hernia, Cleft palate, Polyhydramnios, Brachycephaly, Blue sclerae, Abnormality of the pinna, Sparse lateral eyebrow, Long palpebral fissure, Low-set ears, Muscular hypotonia, Soft skin, Prominent fingertip pads, Microcephaly",0]
["148050","KBG Syndrome; KBGS","y",null,127502,"ANKRD11","NM_013275.5:c.1621C>T",1,3,"Global developmental delay, Abnormal heart morphology, Long philtrum",0]
["148050","KBG Syndrome; KBGS","y",null,40540,"ANKRD11","NM_013275.5:c.1372C>T",1,8,"Short middle phalanx of the 5th finger, Global developmental delay, Avascular necrosis of the capital femoral epiphysis, Autism, Long palpebral fissure, Long philtrum, Slender finger, Clinodactyly",0]
["148050","KBG Syndrome; KBGS","y",null,116550,"ANKRD11","NM_001256182.1:c.6968_6975del",1,4,"Epileptic spasms, Developmental regression, Atopic dermatitis, Seizures",0]
["148050","KBG Syndrome; KBGS","y",null,122237,"ANKRD11","NM_013275.5:c.4270delT",1,8,"Intrauterine growth retardation, Delayed speech and language development, Low-frequency hearing loss, Preauricular skin tag, Synophrys, Long eyelashes, Downturned corners of mouth, Clinodactyly",0]
["148050","KBG Syndrome; KBGS","y",null,52015,"ANKRD11","NM_013275.5:c.2826_2829delAGAG",1,21,"Short 5th finger, Short distal phalanx of finger, Hypermetropia, Highly arched eyebrow, Hearing impairment, Global developmental delay, Abnormal eating behavior, Delayed skeletal maturation, Clinodactyly of the 5th finger, Shortening of all middle phalanges of the toes, Attention deficit hyperactivity disorder, Low-set ears, Macrodontia of permanent maxillary central incisor, Mild short stature, Misalignment of teeth, Narrow nasal bridge, Protruding ear, Sandal gap, Reduced number of teeth, Strabismus, Sparse and thin eyebrow",0]
["130720","Lateral Meningocele Syndrome; LMNS","y",null,39261,"NOTCH3","NM_000435.2:c.6626dup",15,6,"Global developmental delay, Fused teeth, Spinalarachnoid cyst, Anteverted nares, Unilateral cleft lip, Synophrys",0]
["130720","Lateral Meningocele Syndrome; LMNS","y",null,47850,"NOTCH3","NM_000435.2:c.6626dupC",2,4,"Generalized seizures, Spinalarachnoid cyst, Mild global developmental delay, Unilateral cleft lip",0]
["154700","Marfan Syndrome; MFS","y",null,155732,"FBN1","NM_000138.4:c.5110C>T",1,3,"Aortic root aneurysm, Pectus carinatum, Scoliosis",0]
["235730","Mowat-Wilson Syndrome; MOWS","y",null,51700,"ZEB2","NM_014795.3:c.2083C>T",1,28,"Hydronephrosis, Depressed nasal bridge, Deeply set eye, Dysplastic aortic valve, Deep plantar creases, Deep palmar crease, Bulbous nose, Wide nasal bridge, Asplenia, Abnormality of the xiphoid process, Abnormal heart morphology, Redundant skin, Pectus excavatum, Multiple palmar creases, Multiple plantar creases, Periorbital fullness, Pointed chin, Retrognathia, Subvalvular aortic stenosis, Prominent glabella, Redundant neck skin, Short uvula, Concave nasal ridge, Bilateral ductus arteriosus, Interrupted inferior vena cava with azygous continuation, Perimembranous ventricular septal defect, Upslanted palpebral fissure, Uplifted earlobe",0]
["252900, 252920, 252930, 253000, 253010, 253200, 253220, 309900, 601492, 607014, 607015, 607016","Mucopolysaccharidoses","y",null,146399,"IDUA","NM_000203.3:c.208C>T, NM_000203.3:c.1960T>G",1,13,"Hypertrichosis, Hirsutism, Hernia, Full cheeks, Limitation of joint mobility, Coarse facial features, Broad nasal tip, Mucopolysacchariduria, Joint stiffness, Short neck, Umbilical hernia, Recurrent respiratory infections, Thick eyebrow",3,"Cognitive impairment, Narrow face, Proteinuria"]
["601358","Nicolaides-Baraitser Syndrome; NCBRS","y",null,46073,"SMARCA2","NM_003070.3:c.3599A>C",1,4,"Cognitive impairment, Abnormality of the distal phalanx of finger, Wide mouth, Prominent interphalangeal joints",2,"Abnormal nipple morphology, Intellectual disability, severe"]
["601358","Nicolaides-Baraitser Syndrome; NCBRS","y",null,16057,"SMARCA2","NM_003070.3:c.2361C>A",1,6,"Generalized seizures, Malar flattening, Coarse facial features, Intellectual disability, Proportionate short stature, Thick lower lip vermilion",0]
["601358","Nicolaides-Baraitser Syndrome; NCBRS","y",null,51967,"SMARCA2","NM_139045.2:c.3484C>A",1,54,"Delayed speech and language development, Short foot, Hyperpigmentation of the skin, Hyperextensibility of the finger joints, Short stature, Growth delay, Global developmental delay, Gastroesophageal reflux, EEG with focal epileptiform discharges, Fine hair, Facial hypertrichosis, Diastema, Anemia, Cryptorchidism, Constipation, Clinodactyly of the 5th finger, Broad fingertip, Broad eyebrow, Atopic dermatitis, Aplasia/Hypoplasia of the distal phalanges of the hand, Abnormally low-pitched voice, Abnormally lax or hyperextensible skin, Abnormality of the voice, Abnormality of the umbilicus, Inguinal hernia, Lipodystrophy, Long eyelashes, Muscular dystrophy, Neonatal hyperbilirubinemia, Pes planus, Scrotal hypoplasia, Trigonocephaly, Seizures, Sandal gap, Vomiting, Sacral hypertrichosis, Spotty hypopigmentation, Prominent interphalangeal joints, Widely-spaced incisors, Thick nasal alae, Lumbar hypertrichosis, Self-biting, Meconium stained amniotic fluid, Small hand, Thick lower lip vermilion, Thick upper lip vermilion, Microcephaly, Broad philtrum, Thick eyebrow, Synophrys, Sparse scalp hair, Neonatal asphyxia, Hyperconvex toenail, Decreased adipose tissue",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,88419,"PTPN11","NM_002834.3:c.922A>G",1,5,"Hypertelorism, Short stature, Abnormality of the thorax, Low-set ears, Pulmonic stenosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84222,"RIT1","NM_006912.5:c.170C>G",1,8,"Hypertrophic cardiomyopathy, Short stature, Abnormality of the thorax, Lymphedema, Short neck, Pulmonic stenosis, Giant cell tumor of bone, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,51718,"PTPN11","NM_080601.1:c.923A>G",1,10,"Hepatomegaly, Depressed nasal bridge, Downslanted palpebral fissures, Wide nasal bridge, Abnormality of the kidney, Low-set, posteriorly rotated ears, Poor suck, Pulmonic stenosis, Partial atrioventricular canal defect, Prominent forehead",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,191842,"CBL","NM_005188.3:c.1111T>A",5,3,"Delayed speech and language development, Short stature, Pectus excavatum",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,81011,"SOS1","NM_005633.3:c.806T>G",1,3,"Hypertelorism, Downslanted palpebral fissures, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84237,"RIT1","NM_006912.5:c.246T>A",1,5,"Glaucoma, Chylothorax, Abnormal mitral valve morphology, Lymphedema, Pulmonic stenosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84253,"RIT1","NM_006912.5:c.170C>G",1,4,"Hypertrophic cardiomyopathy, Cryptorchidism, Polyhydramnios, Pulmonic stenosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,88421,"PTPN11","NM_002834.3:c.188A>G",1,7,"Hypertelorism, Epicanthus, Cryptorchidism, Bruising susceptibility, Abnormality of the thorax, Pulmonic stenosis, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,80681,"SOS1","NM_005633.3:c.512T>G",1,13,"Hypertelorism, Hyperpigmentation of the skin, Hip dysplasia, Downslanted palpebral fissures, Delayed puberty, Low-set ears, Pectus excavatum, Prolonged bleeding time, Neck pterygia, Pectus carinatum, Pulmonic stenosis, Talipes equinovarus, Thoracic scoliosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,88428,"PTPN11","NM_002834.3:c.853T>G",1,6,"Short stature, Bruising susceptibility, Abnormality of the thorax, Lymphedema, Pulmonic stenosis, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84245,"RIT1","NM_006912.5:c.229G>A",1,6,"Short stature, Motor delay, Polyhydramnios, Atrial septal defect, Abnormality of the thorax, Pulmonic stenosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84255,"RIT1","NM_006912.5:c.170C>G",1,1,"Pulmonic stenosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,79866,"SOS1","NM_005633.3:c.1655G>A",2,16,"Hypermetropia, Giant cell granuloma of mandible, Gastroesophageal reflux, Failure to thrive, Curly hair, Polyhydramnios, Abnormality of the coagulation cascade, Pectus excavatum, Multiple lentigines, Muscular hypotonia, Webbed neck, Pulmonic stenosis, Recurrent infections, Strabismus, Ptosis, Feeding difficulties",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84238,"RIT1","NM_006912.5:c.247A>C",1,7,"Hemangioma, Bruising susceptibility, Abnormality of refraction, Premature birth, Strabismus, Feeding difficulties, Hyperkeratosis pilaris",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84261,"RIT1","NM_006912.5:c.245T>C",1,6,"Short stature, Feeding difficulties in infancy, Short neck, Premature birth, Strabismus, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,163171,"PTPN11","NM_002834.3:c.853T>C",1,10,"Hypothyroidism, Hypermetropia, Short stature, Delayed eruption of teeth, Bruising susceptibility, Amblyopia, Abnormality of the thumb, Specific learning disability, Low-set, posteriorly rotated ears, Microcephaly",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,88424,"PTPN11","NM_002834.3:c.922A>G",1,7,"Hypertelorism, Global developmental delay, Abnormality of the thorax, Low-set ears, Lymphedema, Pulmonic stenosis, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,88433,"PTPN11","NM_002834.3:c.1507G>C",1,7,"Short stature, Global developmental delay, Abnormality of the thorax, Lymphedema, Pterygium, Pulmonic stenosis, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84247,"RIT1","NM_006912.5:c.170C>G",2,15,"Hypertrophic cardiomyopathy, Feeding difficulties in infancy, Motor delay, Cryptorchidism, Chylothorax, Polyhydramnios, Bruising susceptibility, Abnormality of the thorax, Abnormal mitral valve morphology, Lymphedema, Numerous nevi, Pleural effusion, Premature birth, Strabismus, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,88425,"PTPN11","NM_002834.3:c.922A>G",1,8,"Short stature, Global developmental delay, Cryptorchidism, Bruising susceptibility, Abnormality of the thorax, Pterygium, Pulmonic stenosis, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,81850,"RAF1","NM_002880.3:c.770C>T",1,15,"Hypertrophic cardiomyopathy, Hypertelorism, Broad forehead, Depressed nasal bridge, Downslanted palpebral fissures, Cystic hygroma, Cutis marmorata, Polyhydramnios, Low posterior hairline, Low-set, posteriorly rotated ears, Muscular hypotonia, Anteverted nares, Thickened helices, Congenital portosystemic venous shunt, Feeding difficulties",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,44896,"PTPN11","NM_080601.1:c.922A>G",1,15,"Hypertelorism, Global developmental delay, Depressed nasal bridge, Epicanthus inversus, Diastasis recti, Cutis marmorata, Cafe-au-lait spot, Lumbar hyperlordosis, Pectus excavatum, Muscular hypotonia, Posteriorly rotated ears, Soft skin, Talipes, Pulmonary artery stenosis, Unilateral ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,81984,"RAF1","NM_002880.3:c.776C>A",1,13,"Hypertrophic cardiomyopathy, Hypertelorism, Short stature, Feeding difficulties in infancy, Downslanted palpebral fissures, Deep palmar crease, Polyhydramnios, Abnormality of refraction, Nevus, Low posterior hairline, Low-set ears, Broad philtrum, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,81728,"RAF1","NM_002880.3:c.770C>T",1,11,"Hypertrophic cardiomyopathy, Hydrocephalus, Short stature, Feeding difficulties in infancy, Failure to thrive in infancy, Bruising susceptibility, Increased nuchal translucency, Superior pectus carinatum, Pectus excavatum of inferior sternum, Short neck, Short attention span",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,33878,"SOS1","NM_005633.3:c.1655G>A",1,9,"Hypertelorism, Cryptorchidism, Cranial asymmetry, Polyhydramnios, Brachycephaly, Anteverted nares, Prominent ear helix, Thin upper lip vermilion, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,88417,"PTPN11","NM_002834.3:c.184T>G",1,6,"Short stature, Bruising susceptibility, Abnormality of the thorax, Pterygium, Pulmonic stenosis, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,114666,"RAF1","NM_002880.3:c.770C>T",1,3,"Hypertrophic cardiomyopathy, Short stature, Macrocephaly",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,81729,"SOS1","NM_005633.3:c.806T>G",1,2,"Downslanted palpebral fissures, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84257,"RIT1","NM_006912.5:c.229G>A",1,7,"Abnormality of the thorax, Abnormal mitral valve morphology, Abnormality of refraction, Numerous nevi, Pulmonic stenosis, Strabismus, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84219,"RIT1","NM_006912.5:c.91G>C",1,2,"Pulmonic stenosis, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84240,"RIT1","NM_006912.5:c.104G>C",1,5,"Hypertrophic cardiomyopathy, Hemangioma, Polyhydramnios, Short neck, Pulmonic stenosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,88412,"PTPN11","NM_002834.3:c.922A>G",1,4,"Short stature, Bruising susceptibility, Pulmonic stenosis, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,88411,"PTPN11","NM_002834.3:c.236A>G",1,3,"Hypertelorism, Short stature, Pulmonic stenosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,131116,"PTPN11","NM_002834.3:c.1232C>T",2,22,"Underdeveloped supraorbital ridges, Hypertelorism, Hyperextensible skin, High forehead, High, narrow palate, Feeding difficulties in infancy, Downslanted palpebral fissures, Dental malocclusion, Motor delay, Deep plantar creases, Deep palmar crease, Cutis marmorata, Coarse hair, Joint hypermobility, Posteriorly rotated ears, Webbed neck, Sparse eyelashes, Pulmonic stenosis, Papule, Broad philtrum, Triangular face, Sparse and thin eyebrow",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,81045,"RAF1","NM_002880.3:c.1827C>G",1,22,"Hypertelorism, High palate, Depressed nasal bridge, Epicanthus, Downslanted palpebral fissures, Deep plantar creases, Curly hair, Polyhydramnios, Atopic dermatitis, Abnormal elasticity of skin, Inguinal hernia, Joint hypermobility, Low-set, posteriorly rotated ears, Numerous nevi, Superior pectus carinatum, Pectus excavatum of inferior sternum, Pulmonic stenosis, Prominent nipples, Supraventricular tachycardia, Prominent nasal tip, Strabismus, Unilateral cryptorchidism",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,79887,"RAF1","NM_002880.3:c.770C>T",1,12,"Hypertelorism, Edema, Dysplastic aortic valve, Downslanted palpebral fissures, Cryptorchidism, Cardiomyopathy, Low-set ears, Muscular hypotonia, Pleural effusion, Pulmonic stenosis, Ptosis, Feeding difficulties",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,88330,"RAF1","NM_002880.3:c.781C>T",1,9,"Hypertrophic cardiomyopathy, Gastroesophageal reflux, Atrial septal defect, Arrhythmia, Lymphedema, Short neck, Pulmonic stenosis, Sparse hair, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,88429,"PTPN11","NM_002834.3:c.853T>G",1,1,"Low-set ears",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,45255,"PTPN11","NM_002834.3:c.417G>C",1,15,"Highly arched eyebrow, Short stature, Smooth philtrum, Fair hair, Brachydactyly, Decreased body weight, Cryptorchidism, Clinodactyly of the 5th finger, Blue irides, Bilateral ptosis, Intellectual disability, Recurrent otitis media, Short neck, Down-sloping shoulders, Thin upper lip vermilion",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84252,"RIT1","NM_006912.5:c.284G>C",1,11,"Hemangioma, Short stature, Motor delay, Polyhydramnios, Atrial septal defect, Abnormality of refraction, Intellectual disability, Intestinal lymphangiectasia, Short neck, Premature birth, Feeding difficulties",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,81702,"RAF1","NM_002880.3:c.770C>T",1,12,"Hypertrophic cardiomyopathy, Hypertelorism, Short stature, Downslanted palpebral fissures, Atrial septal defect, Increased nuchal translucency, Low posterior hairline, Low-set ears, Muscular hypotonia, Ventricular septal defect, Relative macrocephaly, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84243,"RIT1","NM_006912.5:c.170C>G",1,9,"Hypertrophic cardiomyopathy, Short stature, Feeding difficulties in infancy, Atrial septal defect, Lymphedema, Short neck, Ventricular septal defect, Pulmonic stenosis, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,79867,"SOS1","NM_005633.3:c.1655G>A",2,9,"Curly hair, Polyhydramnios, Pectus excavatum, Multiple lentigines, Muscular hypotonia, Webbed neck, Pulmonic stenosis, Scoliosis, Feeding difficulties",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84242,"RIT1","NM_006912.5:c.104G>C",1,10,"Hypertrophic cardiomyopathy, Feeding difficulties in infancy, Bruising susceptibility, Abnormality of the thorax, Abnormality of refraction, Intellectual disability, Short neck, Premature birth, Pulmonic stenosis, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84215,"RIT1","NM_006912.5:c.91G>C",1,4,"Abnormality of the thorax, Short neck, Pulmonic stenosis, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,80730,"SOS1","NM_005633.3:c.797C>A",1,9,"Hypertelorism, Deep palmar crease, Aortic valve stenosis, Abnormally lax or hyperextensible skin, Low-set ears, Pectus excavatum, Pulmonic stenosis, Sparse hair, Sparse and thin eyebrow",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,81054,"RAF1","NM_002880.3:c.1472C>T",1,4,"Hypertelorism, Short stature, Global developmental delay, Curly hair",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,88434,"PTPN11","NM_002834.3:c.228G>C",1,4,"Short stature, Downslanted palpebral fissures, Abnormality of the thorax, Pulmonic stenosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,81031,"SOS1","NM_005633.3:c.1654A>G",3,3,"Hypertelorism, Broad nasal tip, Broad philtrum",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84231,"RIT1","NM_006912.5:c.246T>A",1,11,"Hypertrophic cardiomyopathy, Hydrops fetalis, Short stature, Feeding difficulties in infancy, Motor delay, Atrial septal defect, Abnormal mitral valve morphology, Abnormality of refraction, Lymphedema, Short neck, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,88432,"PTPN11","NM_002834.3:c.182A>G",1,8,"Short stature, Global developmental delay, Cryptorchidism, Bruising susceptibility, Abnormality of the thorax, Pterygium, Pulmonic stenosis, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,44873,"PTPN11","NM_002834.3:c.923A>G",1,13,"High anterior hairline, Global developmental delay, Depressed nasal ridge, Epicanthus, Blue irides, Bilateral ptosis, Long fingers, Long toe, Muscular hypotonia, Pulmonic stenosis, Relative macrocephaly, Wide intermamillary distance, Proptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,88349,"SOS1","NM_005633.3:c.1655G>A",1,4,"Hypertelorism, Depressed nasal bridge, Epicanthus, Wide nasal bridge",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,88418,"PTPN11","NM_002834.3:c.923A>G",1,2,"Global developmental delay, Pulmonic stenosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,81996,"RAF1","NM_002880.3:c.770C>T",1,14,"Hypertrophic cardiomyopathy, Hypertelorism, High forehead, Short stature, Global developmental delay, Depressed nasal bridge, Failure to thrive in infancy, Curly hair, Polyhydramnios, Low-set, posteriorly rotated ears, Nevus flammeus, Single umbilical artery, Relative macrocephaly, Strabismus",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84229,"RIT1","NM_006912.5:c.170C>G",1,13,"Hypertrophic cardiomyopathy, Short stature, Fetal ascites, Feeding difficulties in infancy, Motor delay, Chylothorax, Polyhydramnios, Abnormality of the thorax, Pleural effusion, Short neck, Premature birth, Pulmonic stenosis, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,88430,"PTPN11","NM_002834.3:c.1507G>C",1,3,"Short stature, Global developmental delay, Pulmonic stenosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,81853,"RAF1","NM_002880.3:c.1082G>C",2,2,"Hypertelorism, Curly hair",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84239,"RIT1","NM_006912.5:c.270G>T",1,9,"Hemangioma, Motor delay, Chylothorax, Cataract, Atrial septal defect, Abnormal mitral valve morphology, Abnormality of refraction, Premature birth, Pulmonic stenosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,80762,"SOS1","NM_005633.3:c.1300G>A",1,22,"Depressed nasal bridge, Epicanthus, Deep plantar creases, Deep philtrum, Deep palmar crease, Curly hair, Clinodactyly of the 5th finger, Wide nasal bridge, Increased nuchal translucency, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Pectus excavatum, Anteverted nares, Short nose, Short neck, Umbilical hernia, Pulmonic stenosis, Wide intermamillary distance, Ptosis, Sparse and thin eyebrow, Short palpebral fissure",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,81975,"SOS1","NM_005633.3:c.1867T>A",1,5,"Downslanted palpebral fissures, Deep plantar creases, Coarse facial features, Short neck, Sparse hair",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,123458,"SOS1","NM_005633.3:c.1656G>C",1,9,"Downslanted palpebral fissures, Atrial septal defect, Low-set, posteriorly rotated ears, Umbilical hernia, Pulmonic stenosis, Pulmonary artery stenosis, Preeclampsia, Ptosis, Abnormality of lateral ventricle",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,88345,"SOS1","NM_005633.3:c.508A>G",1,11,"Hypoplastic toenails, Underdeveloped supraorbital ridges, Hemangioma, Depressed nasal bridge, Feeding difficulties in infancy, Epicanthus, Deep plantar creases, Deep palmar crease, Muscular hypotonia, Pulmonic stenosis, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84228,"RIT1","NM_006912.5:c.69A>C",1,2,"Atrial septal defect, Pulmonic stenosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84241,"RIT1","NM_006912.5:c.284G>C",1,11,"Hemangioma, Cryptorchidism, Bruising susceptibility, Abnormality of the thorax, Abnormal mitral valve morphology, Abnormality of refraction, Intellectual disability, Lymphedema, Short neck, Strabismus, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,84226,"RIT1","NM_006912.5:c.284G>C",1,6,"Curly hair, Atrial septal defect, Abnormality of refraction, Ventricular septal defect, Scoliosis, Ptosis",0]
["163950, 605275, 609942, 610733, 611553, 613224, 613706, 615355, 616559, 616564","Noonan Syndrome","y",null,88407,"PTPN11","NM_002834.3:c.922A>G",1,3,"Global developmental delay, Pulmonic stenosis, Ptosis",0]
["603736","Ohdo Syndrome, SBBYS Variant; SBBYSS","y",null,52108,"KAT6B","NM_001256469.1:c.2165_2166delAA",1,27,"Lacrimal duct atresia, Hypertelorism, Global developmental delay, Excessive salivation, Epicanthus, Decreased palmar creases, Congenital ptosis, Broad nasal tip, Blepharophimosis, Astigmatism, Long proximal phalanx of finger, Low-set ears, Microtia, Muscular hypotonia, Narrow mouth, Open mouth, Patent foramen ovale, Stereotypy, Poor suck, Unilateral ptosis, Thick nasal alae, Thin upper lip vermilion, Microcephaly, Strabismus, Sparse and thin eyebrow, Short palpebral fissure, Impacted cerumen",0]
["603736","Ohdo Syndrome, SBBYS Variant; SBBYSS","y",null,31531,"KAT6B","NM_012330.3:c.4131del",1,4,"Agenesis of corpus callosum, Cryptorchidism, Scrotal hypoplasia, Microcephaly",0]
["610954","Pitt-Hopkins Syndrome; PTHS","y",null,62094,"TCF4","NM_001243226.1:c.2025_2028dupCAAT",1,14,"Global developmental delay, Exaggerated cupid's bow, Deeply set eye, Cerebral hypoplasia, Broad-based gait, Absent speech, Intellectual disability, severe, Myopia, Prominent supraorbital ridges, Single transverse palmar crease, Strabismus, Upslanted palpebral fissure, Tented upper lip vermilion, Overhanging nasal tip",1,"Seizures"]
["268400","Rothmund-Thomson Syndrome; RTS","y",null,33750,"RECQL4","NM_004260.3:c.2492_2493del, NM_004260.3:c.2492delAT",1,9,"Short foot, Hypertelorism, Short stature, Absent eyelashes, Everted lower lip vermilion, Absent eyebrow, Absent cupid's bow, Pathologic fracture, Small hand",0]
["180850, 610543, 613684","Rubinstein-Taybi Syndrome","y",null,51561,"CREBBP","NM_001079846.1:c.6250del",1,33,"Inappropriate laughter, Hypokinesia, Hypersomnia, Highly arched eyebrow, Growth delay, Global developmental delay, Flat occiput, Everted lower lip vermilion, Downturned corners of mouth, Low hanging columella, Clinodactyly of the 5th finger, Cafe-au-lait spot, Broad hallux, Broad eyebrow, Short 3rd toe, Convex nasal ridge, Abnormality of zinc homeostasis, Abnormal toenail morphology, Abnormality of the testis, Abnormality of skin morphology, Joint hyperflexibility, Joint hypermobility, Multiple plantar creases, Organic aciduria, Polycythemia, Poor eye contact, Poor suck, Posteriorly rotated ears, Prominent sternum, Soft, doughy skin, Scoliosis, Recurrent infantile hypoglycemia, Edema of the dorsum of feet",0]
["180850, 610543, 613684","Rubinstein-Taybi Syndrome","y",null,158501,"EP300","NM_001429.3:c.3070_3071insT",1,6,"Hypertrichosis, Postnatal growth retardation, Gastroesophageal reflux, Coarctation of aorta, Intrauterine growth retardation, Ventricular septal defect",0]
["180850, 610543, 613684","Rubinstein-Taybi Syndrome","y",null,31445,"CREBBP","NM_004380.2:c.6436C>T",1,4,"Low hanging columella, Broad hallux, Intellectual disability, moderate, Microcephaly",0]
["180850, 610543, 613684","Rubinstein-Taybi Syndrome","y",null,41784,"CREBBP","NM_004380.2:c.4206delT",1,17,"Delayed speech and language development, High anterior hairline, Short stature, Global developmental delay, Constipation, Broad-based gait, Broad thumb, Abnormality of the first metatarsal bone, Abnormality of the columella, Abnormal position of hair whorl, Megalocornea, Myopia, Postaxial polydactyly, Long eyebrows, Lumbar hypertrichosis, Thick lower lip vermilion, Microcephaly",0]
["270400","Smith-Lemli-Opitz Syndrome; SLOS","y",null,40639,"DHCR7","NM_001360.2:c.1A>G",1,9,"Short thumb, Cognitive impairment, 2-3 toe cutaneous syndactyly, Abnormality of the thumb, Microretrognathia, Periorbital wrinkles, Single transverse palmar crease, Sandal gap, Rudimentary postaxial polydactyly of hands",0]
["270400","Smith-Lemli-Opitz Syndrome; SLOS","y",null,40643,"DHCR7","NM_001360.2:c.1A>C",1,16,"Delayed speech and language development, Short thumb, Hypertelorism, 2-3 toe cutaneous syndactyly, Wide nasal bridge, Broad finger, Bifid uvula, Abnormality of the palmar creases, Abnormality of the 2nd finger, Microretrognathia, Penile hypospadias, Periorbital wrinkles, Unilateral renal agenesis, Flat face, Thin upper lip vermilion, Unilateral cryptorchidism",0]
["117550, 614753","Sotos Syndrome","y",null,62099,"NSD1","NM_172349.2:c.5243G>A",1,11,"High forehead, Broad-based gait, Behavioral abnormality, Increased body weight, Tall stature, Osteopenia, Overgrowth, Pointed chin, Recurrent otitis media, Sparse anterior scalp hair, Macrocephaly",0]
["117550, 614753","Sotos Syndrome","y",null,47450,"NSD1","NM_022455.4:c.3038C>G",1,18,"Hypoplasia of the corpus callosum, Hydrocele testis, Hydronephrosis, Motor delay, Deep plantar creases, Deep palmar crease, Advanced eruption of teeth, Abnormality of the pinna, 4-5 toe syndactyly, Tall stature, Long foot, Large hands, Muscular hypotonia of the trunk, Neonatal hyperbilirubinemia, Neonatal hypoglycemia, Nasogastric tube feeding in infancy, Delayed myelination, Macrocephaly",0]
["150230, 190350, 190351","Trichorhinophalangeal Syndrome","y",null,51546,"TRPS1","NM_014112.2:c.1630C>T",1,23,"Short 5th finger, Short 5th metacarpal, High forehead, Smooth philtrum, Fine hair, Fair hair, Dental malocclusion, Cone-shaped epiphysis, Clinodactyly of the 5th finger, Carious teeth, Broad hallux, Broad thumb, Joint hypermobility, Long philtrum, Periorbital fullness, Short nail, Thin nail, Slow-growing hair, Tapering pointed ends of distal finger phalanges, Slow-growing nails, Ulnar deviation of the 2nd finger, Thin upper lip vermilion, Prominent forehead",0]
["150230, 190350, 190351","Trichorhinophalangeal Syndrome","y",null,130011,"TRPS1","NM_014112.2:c.2755C>G",1,14,"Short 3rd finger, Underdeveloped nasal alae, Absent eyelashes, Bulbous nose, Arthralgia, Alopecia of scalp, Absent eyebrow, Long philtrum, Metatarsus adductus, Osteoporosis, Posteriorly rotated ears, Thin vermilion border, Vertebral compression fractures, Swelling of proximal interphalangeal joints",0]
["150230, 190350, 190351","Trichorhinophalangeal Syndrome","y",null,35441,"TRPS1","NM_014112.2:c.2795C>T",1,9,"2-3 toe cutaneous syndactyly, Bulbous nose, Short 3rd toe, Abnormality of the frontal hairline, Recurrent infections, Prominent interphalangeal joints, Short 5th toe, Macrocephaly, Sparse scalp hair",0]
["150230, 190350, 190351","Trichorhinophalangeal Syndrome","y",null,23535,"TRPS1","NM_014112.2:c.2725dup",1,5,"Lacrimal duct atresia, Feeding difficulties in infancy, Long philtrum, Prominent nasal tip, Sparse scalp hair",0]
["150230, 190350, 190351","Trichorhinophalangeal Syndrome","y",null,52586,"TRPS1","NM_014112.2:c.2723G>A",1,20,"Short hallux, Short finger, Flat nasal alae, Fine hair, Brachydactyly, Cone-shaped epiphyses of the middle phalanges of the hand, Aortic aneurysm, Abnormal eyebrow morphology, Abnormality of the columella, Long philtrum, Mitral valve prolapse, Protruding ear, Short nail, Recurrent infections, Short palm, Prominent nasal tip, Shortening of all metacarpals, Mild global developmental delay, Shortening of all phalanges of fingers, Testicular torsion",0]
["190350","Trichorhinophalangeal Syndrome , Type I; TRPS1","y",null,129987,"TRPS1","NM_014112.2:c.2110delG",1,11,"Slow-growing scalp hair, Sparse scalp hair, Atrophic, patchy alopecia, Sparse lateral eyebrow, Pear-shaped nose, Long philtrum, Scoliosis, Swelling of proximal interphalangeal joints, Radial deviation of the 4th finger, Radial deviation of the 5th finger, Metacarpophalangeal joint hyperextensibility",1,"Intellectual disability"]
["190350","Trichorhinophalangeal Syndrome , Type I; TRPS1","y",null,35294,"TRPS1","NM_014112.2:c.1734delA",1,6,"Underdeveloped nasal alae, Growth delay, Everted lower lip vermilion, Sparse hair, Short metacarpal, Short metatarsal",0]
["103470, 148820, 193500, 193510, 277580, 608890, 611584, 613265, 613266","Waardenburg Syndrome","y",null,34244,"PAX3","NM_181459.3:c.748dup",1,4,"Heterochromia iridis, Congenital sensorineural hearing impairment, Premature graying of hair, Short palm",0]
["136500, 227260, 614973, 614974","Focal Facial Dermal Dysplasia",null,"20691403",239928,"TWIST2","NM_057179.2:c.355C>T",1,2,"Bitemporal forceps marks, Abnormality of upper eyelashes",0]