autosomal dominant cerebellar ataxia, deafness and narcolepsy

Term ID

DOID:0050968

Synonyms

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

References

• GARD:12372
• OMIM:604121

Ontology

Human Disease   ( DOID:0050968 )