Brain Malformations with or without Urinary Tract Defects

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the NFIA gene, encoding nuclear factor 1 A-type. It is characterized by dysmorphic features, developmental delay, central nervous system abnormalities, most commonly of the corpus callosum, and urinary tract anomalies.

**Synonyms:** - BRMUTD