neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
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.
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
GEMIN5 disorder
exact
GEMIN5-related neurodevelopmental disorder
exact
NEDCAM
exact