Table 1.
Clinical Features of the Probands of Families 1 and 2
| Family 1 (DM074) | Family 2 (DM516) |
|---|---|
| Age/Sex | |
| 11 years/female | 4 months (deceased)/female |
| Ethnicity | |
| European American | Mexican |
| NCAPG2 Mutation (GenBank:NM_017760.6) | |
| c.1825A>G (p.Lys609Glu) heterozygous-maternal | c.2548A>C (p.Thr850Pro) homozygous-paternal/maternal |
| c.2078C>T (p.Thr693Met) heterozygous-paternal | |
| Head and neck phenotypes | |
| microcephaly (HP: 0000252) | microcephaly (HP: 0000252) |
| frontal bossing (HP: 0002007) | micrognathia (HP: 0000347) |
| delayed closure of anterior fontanelle (HP: 0001476) | arched eyebrows (HP: 0002553) |
| short nose (HP: 0003196) | |
| triangular mouth (HP: 0000207) | |
| Central Nervous System (Structure and Function) | |
| cerebellar vermis hypoplasia (HP: 0001320) | hypertonia (HP: 0001276) |
| colpocephaly (HP:0030048) | low-lying conus medullaris (HP: 0002143) |
| history of dilated cerebral ventricles (HP: 0002119) | |
| history of tethered cord (HP: 0002144) | |
| intellectual disability, moderate (HP: 0002342) | |
| non-verbal (HP: 0001344) | |
| developmental delay (HP: 0001263) | |
| hypotonia (HP: 0001290) | |
| Urogenital Abnormalities | |
| history of hydronephrosis (HP: 0000126) | hydronephrosis (HP: 0000126) |
| small right kidney (HP: 0012583) | small kidneys (HP: 0000089) |
| renal cysts (HP: 0000107) | |
| history of bilateral vesicoureteral reflux (HP: 0000076 | |
| ureteral duplication (HP: 0000073) | |
| absent clitoris (HP: 0040255) | |
| Ocular Abnormalities | |
| vision loss (HP: 0000572) | vision loss (HP: 0000572) |
| history of strabismus (HP: 0000486) | Peters anomaly (HP: 0000659) |
| history of nystagmus (HP: 0000639) | glaucoma (HP: 0000501) |
| pigmentary retinopathy (HP: 0000580) | buphthalmos (HP: 0000557) |
| history of epiblepharon (HP: 0011225) | |
| corneal scarring (HP: 0000559) | |
| history of eye-lash inversion (HP: 0001128) | |
| Skeletal and Digit Abnormalities | |
| bilateral post axial polydactyly on feet (HP: 0100259) | clinodactyly, fifth finger, right hand (HP: 0030084) |
| history of scoliosis (HP: 0002650) | absent fourth and fifth digits, left foot; absent fifth digit, right foot (HP: 0006209) |
| mild pectus excavatum (HP: 0000767) | contractures of left arm and leg (HP: 0001371) |
| Growth Defects | |
| short stature (HP: 0004322) | Intrauterine growth restriction (HP: 0001511) |
| small for gestational age (HP: 0001518) | |
| failure to thrive (HP: 0001508) | |
| Other Phenotypes | |
| sacral dimple (HP: 0000960) | sacral dimple (HP: 0000960) |
| sensorineural hearing impairment (HP: 0000407) | patent ductus arteriosus after premature birth (HP: 0011649) |
| sleep apnea (HP: 0010535) | patent foramen ovale (HP: 0001655) |
| anus malposition (HP: 0004397) | tricuspid regurgitation (HP: 0005180) |
| eczema (HP: 0000964) | heart murmur (HP: 0030148) |
| bilateral superior vena cava with no bridging vein (HP: 0011668), | |
| anemia (HP: 0001903) | |
| lymphopenia (HP: 0001888) | |
| neutropenia (HP: 0001875) | |
| oral-pharyngeal dysphagia (HP: 0200136) | |
Human Phenotype Ontology (HPO) terms are indicated in parentheses; HP = human phenotype