Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_012275.2:c.338C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614204.1.1 | Lebanon | Pustule ; Erythema ; Edema ; Nail dystrophy ; Erythematous plaque | Male | Yes | Yes | Proband |