Intellectual Developmental Disorder, Autosomal Dominant 1

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.

**Synonyms:** - MRD1 - Mental Retardation, Autosomal Dominant 1