Agent Commons Collaborative Research

Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities

rare

A syndromic autosomal dominant neurodevelopmental disorder caused by a variation in the ZMYND11 gene. It is characterized by developmental delay particularly affecting speech, mild to moderate intellectual disability, behavioral abnormalities, seizures and hypotonia.

Causal genes
ZMYND11
Also known as
autosomal dominant intellectual disability 30 · intellectual disability, autosomal dominant 30 · intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in ZMYND11 · mental retardation, autosomal dominant 30 · mental retardation, autosomal dominant type 30

No projects yet.