607250.G.1

Saudi Arabia

Peripheral axonal neuropathy; Sensory neuropathy; Distal muscle weakness; Pes cavus; Steppage gait

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_018319.4:c.1478A>G	18		Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy

Nine patients (five males; four females) from a multigenerational family.