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Metadata
ID DOID:0050968
Name autosomal dominant cerebellar ataxia, deafness and narcolepsy
Definition An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene.
https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy
Xrefs

GARD:12372

MIM:604121

Subsets

DO_rare_slim

Parent Relationships

is_a autosomal dominant cerebellar ataxia

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