610220.2.1

Country

Palestine

HPO Terms

Bilateral sensorineural hearing impairment

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001042702.5:c.406C>T	2		Deafness, Autosomal Recessive 59

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Remarks

The families of 610220.2.1, 610220.3.1 and 610220.4.1 "originate from the same Israeli Arab village, belong to the same clan and bear the same family name, making a distant relationship possible".

References

Borck et al. 2012

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
610220.2.2	Palestine	Bilateral sensorineural hearing impairment	Female	Yes	Yes	Sister of 610220.2.1
610220.2.3	Palestine		Male	Yes		Father of 610220.2.1
610220.2.4	Palestine		Female	Yes		Mother of 610220.2.1