604778.10.1

Algeria

Ichthyosis; Congenital ichthyosiform erythroderma; Hyperkeratosis; Circumungual hyperkeratosis; Epidermal acanthosis;

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Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_173483.3:c.1306C>G	2		Ichthyosis, Congenital, Autosomal Recessive 5

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
604778.10.2	Algeria	Ichthyosis; Congenital ichthyosiform erythroderma; Hyperkeratosis; Circumungual hyperkeratosis; Epidermal acanthosis;	Female	Yes	Yes	Sibling of 604778.10.1

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