242100.1.1

Country

Lebanon

HPO Terms

Congenital nonbullous ichthyosiform erythroderma; Ectropion
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001139.3:c.1294C>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
242100.1.2LebanonMaleYesUnaffected father of 242100.1.1
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