600791.3

United Arab Emirates

Congenital sensorineural hearing impairment

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000441.2:c.1211C>T	1		Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct
NM_000441.2:c.2174_2177dup	1		Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct

Subject with compound heterozygous mutation

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
600791.4	United Arab Emirates	Congenital sensorineural hearing impairment	Unknown
600791.5	United Arab Emirates	Sensorineural hearing impairment	Female	Yes	Yes	Patient from 'family 2' in the publication. Patient has affected cousins.