neurodevelopmental disorder with cerebellar atrophy and with or without seizures
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.
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
NEDCAS
exact
neurodevelopmental disorder with cerebellar atrophy and with or without seizures
exact