Intellectual developmental disorder, autosomal dominant 72
Intellectual developmental disorder, autosomal dominant 72
Definition
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.
Also known as autosomal dominant intellectual developmental disorder-72, developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome, MRD72, SRRM2-related neurodevelopmental disorder — per MONDO