242300.9.1 - CAGS

242300.9.1

Country

Egypt

HPO Terms

Congenital nonbullous ichthyosiform erythroderma; Scaling skin;

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000359.3:c.428G>A	2		Ichthyosis, Lamellar, 1

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References

Shawky et al. 2004

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
242300.9.2	Egypt		Female	Yes	Yes	Mother of 242300.9.1

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.