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Autosomal Dominant Cerebellar Ataxia, Deafness And Narcolepsy (MONDO:0011397)

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.

Overview

Category

nervous system disorder

Ontology ID

MONDO:0011397

Internal:12502

Synonyms

ADCA-DN syndrome

autosomal dominant cerebellar ataxia, deafness and narcolepsy

ADCA-DN

ADCADN

autosomal dominant cerebellar ataxia, deafness, and narcolepsy

autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

cerebellar ataxia, deafness, and narcolepsy, autosomal dominant

Mapped terms

DOID:0050968

GARD:0012372

MEDGEN:928337

OMIM:604121

Orphanet:314404

UMLS:C4302668

Child terms

Unknown children.

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