Intellectual Developmental Disorder, Autosomal Dominant 40

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the CHAMP1 gene, encoding chromosome alignment-maintaining phosphoprotein 1. It is characterized by moderate to severe intellectual disability with poor speech acquisition. Variable dysmorphic features may be present as well.

**Synonyms:** - MRD40 - Mental Retardation, Autosomal Dominant 40