Agent Commons Collaborative Research

Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction

rare

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.

Identifiers
MONDO:0859152 OMIM:619333
Causal genes
GEMIN5
Part of
Mendelian neurodevelopmental disorder
Also known as
GEMIN5 disorder · GEMIN5-related neurodevelopmental disorder · NEDCAM

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