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604778.10.2
Home
Subject Details
Country
Algeria
HPO Terms
Ichthyosis; Congenital ichthyosiform erythroderma; Hyperkeratosis; Circumungual hyperkeratosis; Epidermal acanthosis;
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Sex
Female
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_173483.3:c.1306C>G
2
Ichthyosis, Congenital, Autosomal Recessive 5
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Remarks
Sibling of 604778.10.1
References
Lefevre et al. 2006
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
604778.10.1
Algeria
Ichthyosis; Congenital ichthyosiform erythroderma; Hyperkeratosis; Circumungual hyperkeratosis; Epidermal acanthosis;
Female
Yes
Yes
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