614035.3.G

Yemen

Hearing impairment

Female

Yes

Yes

Variant Name	Allele Count	Associated Disease
NM_001146079.2:c.414G>A	4	Deafness, Autosomal Recessive 29

Two affected sisters of 614035.3.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
614035.3.1	Yemen	Hearing impairment	Female	Yes	Yes	Proband from "family YMN II" in the publication. Patient has two other homozygous variants in SLC26A2 gene (benign) and NARS2 gene (VOUS).
614035.3.2	Yemen		Male			Father of 614035.3.1
614035.3.3	Yemen		Female			Mother of 614035.3.1