600791.5

Comoros

Sensorineural hearing impairment

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000441.2:c.716T>A	2		Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct

Patient from 'family 2' in the publication. Patient has affected cousins.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
600791.3	Comoros	Congenital sensorineural hearing impairment	Unknown			Subject with compound heterozygous mutation
600791.4	Comoros	Congenital sensorineural hearing impairment	Unknown