604777.4.1

Country

Algeria

HPO Terms

Ichthyosis; Congenital ichthyosiform erythroderma; Hyperkeratosis; Circumungual hyperkeratosis; Epidermal acanthosis;
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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_173483.3:c.1303C>T 2

Remarks

References

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
604777.4.2 Algeria Ichthyosis; Congenital ichthyosiform erythroderma; Hyperkeratosis; Circumungual hyperkeratosis; Epidermal acanthosis; Male Yes Yes Sibling of 604777.4.1
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