Neurodevelopmental disorder with cerebellar atrophy and with or without seizures

Definition

An an autosomal recessive disorder characterized by intellectual disability associated with ataxia, in which the cause of the disease is a variation in the BRAT1 gene.

Also known as NEDCAS, neurodevelopmental disorder with cerebellar atrophy and with or without seizures — per MONDO

Also identified as

• OMIM 618056 per MONDO
• UMLS C4748032 per MONDO