614035.2.1

Yemen

Hearing impairment

Female

Yes

Yes

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

Proband from "family YMN I" in the publication

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
614035.2.2	Yemen	Hearing impairment	Female	Yes	Yes	Sister of 614035.2.1. Patient has another homozygous variant (likely benign) in BDP1 gene.
614035.2.3	Yemen		Male			Father of 614035.2.1
614035.2.4	Yemen		Female			Mother of 614035.2.1