Version: 8.0.0
Date: Tue Jan 28 2025
1 results
Disease Alleles: Hsap\NOTCH2NLC<uN2CpolyG.UAS.GFP> (Dme)

neuronal intranuclear inclusion disease

Disease
Source: DOID:0081294
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.