/autosomal dominant cerebellar ataxia, deafness and narcolepsy

autosomal dominant cerebellar ataxia, deafness and narcolepsy

Rare Disease

MONDO:0011397

Also Known As

ADCA-DN syndromeautosomal dominant cerebellar ataxia, deafness and narcolepsyADCA-DNADCADNautosomal dominant cerebellar ataxia, deafness, and narcolepsyautosomal dominant cerebellar ataxia-deafness-narcolepsy syndromecerebellar ataxia, deafness, and narcolepsy, autosomal dominant

Definition

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.

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Associated Genes

DNMT1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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