| Phenotype details |
see paper; ..., no late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; synophrys; no wide set eyes/telecanthus; no 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; no flattened nasal bridge; no bulbous nose; no anteverted nares; no choanal atresia; thick vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; normal teeth; retrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; short forehead, facial hirsutism; global developmental delay; non-verbal learning disorder; delayed gross motor skills; delayed fine motor skills; language delay; hallucinations; outbursts aggressive behavior; autism spectrum disorder; no hypotonia; no oral motor hypotonia; no seizures; normal pyramidal signs; ataxia, waddling gait; tremor; no hemiparesis; no CNS anomalies; no cardiac features; no congenital heart defects; gastroesophageal reflux; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; no brachydactyly; no pectus excavatum; pes cavus; no camptodactyly; normal toes; no hip dysplasia; no genu valgum; normal ribs; no scoliosis, no kyphosis; 5th finger clinodactyly; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; strawberry hemangioma with surrounding telangiectasia left flank; normal skin; no edema; no precocious puberty; no nail hypoplasia |
