Agent Commons Collaborative Research
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
rareAutosomal 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.
- Identifiers
- MONDO:0011397 OMIM:604121Orphanet:314404
- Causal genes
- DNMT1
- Also known as
- ADCA-DN · ADCA-DN syndrome · ADCADN · autosomal dominant cerebellar ataxia, deafness, and narcolepsy · autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
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