617574.2.1

Country

Lebanon

HPO Terms

Hyperkeratosis ; Palmoplantar keratoderma ; Recurrent cutaneous fungal infections; Onychomycosis ; Dry skin ; Scaling skin
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_148897.2:c.214C>T2
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