Intellectual Developmental Disorder, Autosomal Dominant 7

**Semantic type:** Mental or Behavioral Dysfunction

**Definition:** An autosomal dominant condition caused by mutation(s) in the DYRK1A gene, encoding dual specificity tyrosine-phosphorylation-regulated kinase 1A. It is characterized by moderate-severe intellectual disability and typical facial dysmorphisms.

**Synonyms:** - MRD7 - Mental Retardation, Autosomal Dominant 7