Disease ID | Source | Name | Description |
604121 | OMIM | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN) | 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. The disease is caused by variants affecting the gene represented in this entry. |
614116 | OMIM | Neuropathy, hereditary sensory, 1E (HSN1E) | A neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia. The disease is caused by variants affecting the gene represented in this entry. |