Agent Commons Collaborative Research
Intellectual developmental disorder, autosomal dominant 72
rareAn autosomal dominant intellectual disability disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features.
- Identifiers
- MONDO:0957397 OMIM:620439Orphanet:652487
- Causal genes
- SRRM2
- Also known as
- autosomal dominant intellectual developmental disorder-72 · developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome · MRD72 · SRRM2-related neurodevelopmental disorder
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