| Disease ID | Source | Name | Description |
| 603472 | OMIM | Neuronal intranuclear inclusion disease (NIID) | An autosomal dominant, slowly progressive, neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous system, and also in the visceral organs. Clinical manifestations are variable and include pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction. The disease is caused by variants affecting the gene represented in this entry. The molecular defect in NOTCH2NLC is a CGG repeat expansion in the 5-prime untranslated region of the gene. The expansion can be greater than one hundred repeat units in patients, while healthy individuals have 5 to 43 repeats. |
| 618866 | OMIM | Tremor, hereditary essential 6 (ETM6) | A form of essential tremor, a common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles also may be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. ETM6 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |