Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Be7fbefa56d12f081945576096eff6b19> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Be7fbefa56d12f081945576096eff6b19 hasDbXref "Orphanet:468678" @default.
- Be7fbefa56d12f081945576096eff6b19 type Axiom @default.
- Be7fbefa56d12f081945576096eff6b19 annotatedProperty IAO_0000115 @default.
- Be7fbefa56d12f081945576096eff6b19 annotatedSource MONDO_0014606 @default.
- Be7fbefa56d12f081945576096eff6b19 annotatedTarget "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation)." @default.