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autosomal dominant cerebellar ataxia, deafness and narcolepsy

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.
Uniprot Description An autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy, cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression.
Mondo Term and Equivalent IDs
MONDO:0011397:  autosomal dominant cerebellar ataxia, deafness and narcolepsy
GARD:0012372: 
Orphanet:314404: 
UMLS:CN203753: