600060.G.2

United Arab Emirates

Congenital sensorineural hearing impairment

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000260.4:c.5637-7_5742+8del	4		Deafness, Autosomal Recessive 2

Two patients with deafness exhibiting a large deletion in MYO7A encompassing exon 40 partially and all of exon 41

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
600060.G.1	United Arab Emirates	Congenital sensorineural hearing impairment	Unknown			Three patients