| Phenotype details |
see paper; ..., no late-closing anterior fontanel; no high anterior hairline; low frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; arched eyebrows; no synophrys; no 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; no flattened nasal bridge; bulbous nose; no anteverted nares; no choanal atresia; thick vermilion; long philtrum; no thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; high/narrow palate; pointed chin; global developmental delay; moderate intellectual disability; delayed gross motor skills; delayed fine motor skills; language delay; abnormal behavior; no aggressive behavior/self-injurious behavior; autism spectrum disorder; stereotypic behavior; hypotonia; oral motor hypotonia; no seizures; gait imbalance; no hemiparesis; parietal/occipital cortical atrophy ; no cardiac features; no congenital heart defects; dysphagia, chronic constipation ; exotropia/strabismus; no 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; feeding/swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no edema; no precocious puberty; no nail hypoplasia; advanced bone age |
