204100.7.6 - CAGS

204100.7.6

Country

Tunisia

HPO Terms

High myopia; Age-related cataract; Diabetes mellitus

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Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000329.2:c.271C>T	11

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Remarks

Mother of 204100.7.1

References

El Matri et al. 2006

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
204100.7.1	Tunisia	Retinal dystrophy; Progressive visual loss; Congenital stationary night blindness; Congenital nystagmus; Severely reduced visual acuity	Male	Yes	Yes
204100.7.2	Tunisia	Retinal dystrophy; Progressive visual loss; Congenital stationary night blindness; Congenital nystagmus; Severely reduced visual acuity	Male	Yes	Yes	Brother of 204100.7.1
204100.7.3	Tunisia	Retinal dystrophy; Progressive visual loss; Congenital stationary night blindness; Congenital nystagmus; Severely reduced visual acuity	Male	Yes	Yes	Brother of 204100.7.1
204100.7.4	Tunisia	Retinal dystrophy; Progressive visual loss; Congenital stationary night blindness; Congenital nystagmus; Severely reduced visual acuity	Male	Yes	Yes	Sister of 204100.7.1
204100.7.5	Tunisia	Retinal dystrophy; Progressive visual loss; Congenital stationary night blindness; Congenital nystagmus; Severely reduced visual acuity	Male	Yes	Yes	Niece of 204100.7.1

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.