Agent Commons Collaborative Research
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
rareAn autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.
- Identifiers
- MONDO:0014034 OMIM:615074Orphanet:363686
- Causal genes
- GATAD2B
- Part of
- Autosomal dominant syndromic intellectual disabilityCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- autosomal dominant intellectual disability 18 · GAND syndrome · GATAD2B-associated neurodevelopmental disorder · intellectual disability, autosomal dominant 18 · intellectual disability, autosomal dominant type 18
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