Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_148897.2:c.599T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617574.1.1 | Lebanon | Hyperkeratosis ; Palmoplantar keratoderma ; Recurrent cutaneous fungal infections ; Onychomycosis ; Dry skin ; Scaling skin | Male | Yes | ||
| 617574.1.3 | Lebanon | Hyperkeratosis ; Palmoplantar keratoderma ; Recurrent cutaneous fungal infections; Onychomycosis ; Dry skin ; Scaling skin | Female | Yes | Yes | Daughter of 617574.1.1 |