label: Brain Malformations with or without Urinary Tract Defects
label_lc: brain malformations with or without urinary tract defects
description: 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.