fragile X-associated tremor/ataxia syndrome

Term ID

DOID:0050879

Synonyms

• FXTAS 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. (4)

References

• OMIM:300623

Ontology

Human Disease   ( DOID:0050879 )