220290.G.11.1

United Arab Emirates

Severe hearing impairment; Profound hearing impairment

Yes

Yes

Variant Name	Allele Count	Associated Disease
NM_004004.5:c.506G>A	6	Deafness, Autosomal Recessive 1A
NM_001305066.1:c.432_434del	6
NM_001145095.1:c.677-7C>T	6
NM_004519.4:c.1994C>T	6
NM_173344.3:c.995A>G	6
NR_000033.2:n.789A>C	6
NM_001166271.3:c.2667+66T>C	6
NM_178540.5:c.166+19C>T	6

3 siblings (2 male, 1 female) with a molecular diagnosis. One additional affected deceased sibling and step-aunt exhibited hearing impairment.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
220290.G.11.2	United Arab Emirates				No	Healthy sister and mother heterozygous for the variant