Brain Malformations with or without Urinary Tract Defects

Preferred Label : Brain Malformations with or without Urinary Tract Defects;

NCIt synonyms : BRMUTD;

NCIt 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.;

Details

Origin ID

C217084;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- NFIA Gene [NCIt concept]

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