Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
MONDO:0859152A 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.
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Disease
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Nervous system disorder
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Hereditary disease
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Neurodevelopmental disorder
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Human disease
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Hereditary neurological disease
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Disease of genetic or genomic mechanism
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Mendelian neurodevelopmental disorder
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