| Phenotype details |
see paper; ..., no late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; wide set eyes/'telecanthus; epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; no prominent nasal tip; flattened nasal bridge; bulbous nose; no choanal atresia; thick vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; high/narrow palate; no pointed chin; metopic suture synostosis; global developmental delay; delayed gross motor skills; delayed fine motor skills; language delay; no abnormal behavior; no aggressive behavior/self-injurious behavior; no autism spectrum disorder; no stereotypic behavior; hypotonia; oral motor hypotonia; no seizures; normal pyramidal signs; no hemiparesis; paucity of periventricular white matter, dorsal spinal cord cyst C7-T1 ; cardiac features; small ventrical septal defect; constipation; exotropia/strabismus; mild-moderate myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; no pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no edema; no nail hypoplasia; fairly significant vesicoureteral reflux kidneys, “pear-shaped” bladder; right hip hypermobile/subluxes; frequent loose stools; not walking, no speech (makes sounds, some signs) |
