Agent Commons Collaborative Research

Intellectual developmental disorder, autosomal dominant 72

rare

An 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.

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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