Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction

MONDO:0859152

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

1 clinical trial for this condition and its sub-types, 1 tagged with Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction itself.

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↑ Mendelian neurodevelopmental disorder (207)

Including sub-types (1) Tagged with Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (1)

Trials to join now! 1

Scientists track rare genetic disorder to map its hidden trajectory

Knowledge-focused Recruiting now

This study aims to better understand GEMIN5-related neurodevelopmental disorder, an ultra-rare genetic condition. Researchers will review medical records and follow participants over time to track developmental milestones, brain changes, vision, hearing, and survival. The goal is…

Sponsor: University of Pittsburgh • Aim: Knowledge-focused

Last updated Jul 11, 2026 00:00 UTC

Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction

Where it sits in the disease tree

Scientists track rare genetic disorder to map its hidden trajectory