Human genes for fragile X-associated tremor/ataxia syndrome
Fragile X-associated tremor/ataxia syndrome [DOID:0050879]
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.
Synonyms: fragile X-associated tremor/ataxia syndrome, DOID:0050879, fragile Xassociated tremor/ataxia syndrome, fragile X-associated tremor/ataxia disease, fragile X-associated tremor/ataxia disorder ...