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- B369cd46a94ad1f525b046f1e57e138fa hasDbXref "Orphanet:468678" @default.
- B369cd46a94ad1f525b046f1e57e138fa type Axiom @default.
- B369cd46a94ad1f525b046f1e57e138fa annotatedProperty IAO_0000115 @default.
- B369cd46a94ad1f525b046f1e57e138fa annotatedSource MONDO_0014606 @default.
- B369cd46a94ad1f525b046f1e57e138fa 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.