Version: 8.0.0
Date: Tue Jan 28 2025
1 results
Disease Alleles: Tg(tetO-FMR1*,-EGFP)#Rkhu (Mmu) Associated Species: Drosophila melanogaster

fragile X-associated tremor/ataxia syndrome

Disease
Source: DOID:0050879
Definition: A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA.