| Metadata | |
|---|---|
| ID | DOID:0050879 |
| Name | fragile X-associated tremor/ataxia syndrome |
| 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. http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome, http://omim.org/entry/300623, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256, https://www.ncbi.nlm.nih.gov/pubmed/18195136 |
| Xrefs | |
| Subsets |
DO_FlyBase_slim |
| Synonyms |
FXTAS syndrome [EXACT] |
| Parent Relationships |