. 2019 Aug;5(4):a004200. doi: 10.1101/mcs.a004200

Table 2.

Clinical features of the new (n = 10) and previously reported cases (n = 24)

New individuals included in this report											Average for new individuals in this report	Summary of previously reported cases
Individual ID	1	2	3	4	5	6	7	8	9	10	n = 10	n = 25
Age	5^7/12 yr	1^4/12 yr	15 yr	7^10/12 yr	9 yr	12^10/12 yr	9^4/12 yr	12 yr	15^3/12 yr	3^5/12 yr	9^2/12 yr (16 mo-15 yr)	18 yr (5–52 yr)
Sex	F	M	F	F	F	M	F	M	M	M	F:M = 5:5	F:M = 14:11
Prenatal issues	None	IUGR Placental insufficiency Maternal hypertension	Nuchal and arachnoid cysts (resolved in utero) LGA	Maternal diabetes LGA	None	None	None	LGA macrocephaly	None	Unilateral ureterocele	50%	37.5%
Neonatal issues	Feeding difficulty	Feeding difficulty GERD PPHN of the newborn	Feeding difficulty Jaundice	Hypotonia Lethargy Jaundice	None	Hypotonia	Feeding difficulty Jaundice	Feeding difficulty Respiratory distress (required resuscitation)	Feeding difficulty Hypotonia	Feeding difficulty Hypotonia Congenital muscular torticollis	Feeding difficulty (70%) Hypotonia (40%)	Feeding difficulty (33%)
Developmental delay	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	100%	92%
Age at sitting	9 mo	Not achieved yet	13 mo	12 mo	8 mo	18 mo	6 mo	6.5 mo	9 mo	20 mo	11.3 mo (n = 9)	Not available for all patients
Age at walking	12 mo	Not achieved yet	19 mo	24 mo	18 mo	24 mo	29 mo	28 mo	24 mo	36 mo	23.8 mo (n = 9)	Not available for all patients
Age at talking	36 mo	9 mo	Normal range	36 mo	9 mo	Normal range	48 mo	Delayed	42 mo	Does not speak in sentences yet	30 mo (n = 6)	Not available for all patients
Intellectual disability	Yes, mild & hyperlexia	Yes	Yes, mild	Yes, mild	Yes, mild	Yes, mild	Yes, mild	Yes, mild	Yes, mild	Yes	100%	92%
Full scale IQ	n/a	n/a	73	68	n/a	60	50-60	n/a	n/a	n/a		n/a
Vineland Overall Age (%)	16%	3%	19%	1%	8%	5%	2%	5%	1%	n/a	6.7%	n/a
Communication (%)	42%	9%	23%	3%	8%	14%	2%	4%	1%		11.8%
Daily living skills (%)	16%	2%	50%	1%	19%	4%	4%	16%	1%		12.6%
Socialization (%)	2%	12%	5%	1%	5%	5%	2%	5%	1%		4.2%
Motor(%)	50%	1%	-	2%	-	-	-	-	-		18%
Behavioral problems	ASD Attention problems SPD	None	ASD features ADHD GAD Tantrums Impulse problems SPD Tics Trichotillomania	ASD features Social anxiety Tantrums Impulse problems	ADHD GAD Tantrums Impulse problems SPD features	ASD ADD Tantrums Anxious in new situations	ASD ADHD GAD PTSD Tantrums Impulse problems SPD features Tics	ADD GAD/depression Tantrums Impulse problems SPD features	ASD ADHD OCD Phobias Tantrums SPD features Enuresis nocturna	None	88%	84%
Sleep problems	Yes	No	Yes	No	No	No	No	No	Yes	No	30%	24%
Dysmorphic features	High forehead Anteverted nares Long and smooth philtrum	High forehead Almond shaped eyes Long and smooth philtrum Thin lips	High forehead Synophrys Hypertelorism Almond shaped eyes Thick helices and earlobes Anteverted nares Thin lips Clinodactyly of 5th finger CAL	High forehead Hypertelorism Almond shaped eyes Thick helices and earlobes Short nose and broad nasal tip Thin lips Clinodactyly Syndactyly of 2-3 toes CAL Hemangioma	High forehead Hypertelorism Thick helices and earlobes Thin lips Clinodactyly of 5th finger Syndactyly of 2-3 toes	High forehead Synophrys Almond shaped eyes Large ears Anteverted nares Short nose and broad nasal tip Long and smooth philtrum	High forehead Large ears Thin lips Clinodactyly of 5^th finger	Large ears Clinodactyly of 5^th finger CAL	Almons shaped eyes Large ears Thin lips CAL	Low-set posteriorly rotated ears with thick helices Arched eyebrows Synophrys Full and long eyelashes Epicanthus Anteverted nares Long philtrum Tongue-tie Transverse palmar crease Sacro-coccygeal dimple without medullar abnormality on MRI	Facial features (100%) Other (60%)	Facial features (96%) Other (79.2%)
Neurologic problems	None	Hypotonia	Hypotonia Abnormal gait	Hypotonia Focal impaired awareness Difficulty walking Dysautonomia Hand tremors	Truncal hypotonia Extremity hypertonia	None	Truncal hypotonia Hypertonia of hands	Hypotonia A single seizure event at 18 mo old Hand tremors	Hypotonia Suspected seizure activity (generalized tonic-clonic) Chorea of limbs Migraine	Hypotonia Febrile seizures Reduced white matter volume Cerebellar hypoplasia	Hypotonia (80%) Seizures (20%)	Hypotonia (32%)
Musculoskeletal problems	None	None	Easily fatigued Hypermobile joints	Easily fatigued Hypermobile joints	Easily fatigued	Easily fatigued Pes planus	Easily fatigued Pes planus	Easily fatigued Pes planus	Easily fatigued Hypermobile joints	Unilateral genu recurvatum	Fatigue (70%)	Fatigue (40%)
Gastrointestinal problems	None	GERD (severe)	Constipation	Constipation (severe) GERD	Constipation GERD	Constipation	Constipation (resolved)	Constipation	Diarrhea Constipation GERD	None	Constipation (70%) GERD (40%)	Constipation(8%) GERD (4%)
Endocrine problems	None	Subclinical hypothyroidism	Borderline overweight (BMI = 23.9, z-score = 1) Delayed bone age Delayed menarche	Obesity (BMI = 30.6, z-score = 2.71)	None	Unilateral cryptorchidism	Recent rapid weight gain	None	Overweight (BMI = 23.9, z-score = 1.09)	None	Obesity/ overweight (30%) Other (30%)	Obesity (76%) Other (16.7%)
Eye problems	None	Pale optic nerve	Convergence problems	Amblyopia Myopia	Convergence problems	Amblyopia Myopia	Myopia Astigmatism Alternating exotropia/amblyopia	None	Severe visual impairment Unilateral legally blind Amblyopia	Myopia Strabismus	80%	72%
Infectious problems	None	None	None	Otitis media Upper respiratory	None	None	UTI	Otitis media Upper respiratory	Otitis media Upper respiratory TI	UTI	50%	24%

(F) Female, (M) male, (n/a) not available, (IUGR) intrauterine growth restriction, (PPHN) persistent pulmonary hypertension in the neonate, (GERD) gastroesophageal reflux disease, (LD) learning disability, (ASD) autism spectrum disorder, (SPD) sensory processing disorder, (ADHD/ADD) attention deficit (hyperactivity) disorder, (GAD) generalized anxiety disorder, (PTSD) posttraumatic stress disorder, (BMI) body mass index, (OM) otitis media, (UTI) urinary tract infection, (CAL) café au lait macule.