616204.1

Saudi Arabia

Abnormal hindbrain morphology

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NC_000004.11:g.(?_93978239)_(94078203_?)del	2		Spinocerebellar Ataxia, Autosomal Recessive 18

Proband from 'family 041' in the publication