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neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A neurodegenerative disorder characterized by gait abnormalities, ataxia, dysarthria, dystonia, vertical gaze palsy, and cognitive decline. Disease onset is in childhood or adolescence. NADGP transmission pattern is consistent with autosomal recessive inheritance.
Mondo Term and Equivalent IDs
MONDO:0014940:  neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
UMLS:C4310693: