601277.1.1 - CAGS

601277.1.1

Country

United Arab Emirates

HPO Terms

Thickened skin; Scaling skin; Bilateral single transverse palmar creases; Small epiphyses of the toes

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Sex

Male

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_173076.3:c.6852G>C	1		Ichthyosis, Congenital, Autosomal Recessive 4A
NM_173076.3:c.2785C>T	1		Ichthyosis, Congenital, Autosomal Recessive 4A
NM_173076.2:c.335del	1		Ichthyosis, Congenital, Autosomal Recessive 4A

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Remarks

The patient had two paternal aunts with a history of skin dryness

References

Bastaki et al. 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
601277.1.2	United Arab Emirates	Thickened skin; Scaling skin; Bilateral single transverse palmar creases; Small epiphyses of the toes	Male	Yes	No	Brother of 61277.1.1
601277.1.3	United Arab Emirates		Male			Father of 601777.1.1
601277.1.4	United Arab Emirates		Female	Yes		Mother of 601277.1.1

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.