Activity

Filter

Cancel
Date Panel Item Activity
1 actions
Hereditary ataxia v1.332 FGF14 Evan Reid reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMC10844931; Phenotypes: Adult onset cerebellar ataxia, adult onsent episodic ataxia, cerebellar oculomotor disturbances, vestibulopathy, peripheral neuropathy, dysautonomia, spasticity, parkinsonism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown