Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001012515.3:c.881T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 177000.2.1 | Lebanon | Cutaneous photosensitivity; Lichenification; Abnormality of the liver | Female | Yes | Yes | |
| 177000.2.3 | Lebanon | Cutaneous photosensitivity; Lichenification; Abnormality of the liver | Female | Yes | Yes | Deceased sibling of 177000.2.1 |