Intellectual Developmental Disorder, Autosomal Dominant 28

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the ADNP gene, encoding activity-dependent neuroprotector homeobox protein. It is characterized by impaired intellectual development, motor delay, autism spectrum disorder, facial dysmorphisms, hypotonia, congenital heart disease, visual difficulties, and gastrointestinal issues.

**Synonyms:** - ADNP Syndrome - Autosomal Dominant Mental Retardation 28 - HVDAS - Helsmoortel-Van Der AA Syndrome - MRD28 - Mental Retardation, Autosomal Dominant 28