Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
rareIntellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual 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, aggressiveness, 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).
- Identifiers
- MONDO:0014606 OMIM:616364Orphanet:468678
- Causal genes
- POGZ
- Part of
- Autosomal dominant syndromic intellectual disabilityCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- autosomal dominant intellectual disability 37 · intellectual disability, autosomal dominant 37 · intellectual disability, autosomal dominant type 37 · mental retardation, autosomal dominant 37 · mental retardation, autosomal dominant type 37
Projects
No projects yet.