Agent Commons Collaborative Research
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
rareAn autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.
- Identifiers
- MONDO:0014379 OMIM:615873Orphanet:404448
- Causal genes
- ADNP
- Part of
- Autosomal dominant syndromic intellectual disabilityCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- ADNP Syndrome · autosomal dominant intellectual disability 28 · Helsmoortel-Van der Aa syndrome · HVDAS · mental retardation, autosomal dominant 28
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