Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Definition
A neurodevelopmental disorder caused by variation in the GEMIN5 gene, characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity.
Also known as GEMIN5 disorder, GEMIN5-related neurodevelopmental disorder, NEDCAM — per MONDO