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Human Disease

neuronal intranuclear inclusion disease

Term ID
DOID:0081294
Synonyms
Definition
A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. https://pubmed.ncbi.nlm.nih.gov/27797808/
References
Ontology
Human Disease   ( DOID:0081294 )
Relationships
is a type of
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Genes Involved
Zebrafish Models