Intellectual Developmental Disorder, Autosomal Dominant 45

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the CIC gene, encoding protein capicua homolog. It is characterized by hypotonia, seizures, intellectual disability, developmental delay and regression, and behavioral issues.

**Synonyms:** - ADID45 - Autosomal Dominant Intellectual Developmental Disorder 45 - IDD45 - MRD45 - Mental Retardation, Autosomal Dominant 45