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242100.1.1
Home
Subject Details
Country
Lebanon
HPO Terms
Congenital nonbullous ichthyosiform erythroderma; Ectropion
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Sex
Male
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001139.3:c.1294C>T
2
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
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References
Kurban et al, 2010
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
242100.1.2
Lebanon
Male
Yes
Unaffected father of 242100.1.1
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