Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001017402.1:c.1460_1461insA | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 226650.1.1 | Lebanon | Abnormal blistering of the skin; Alopecia; Abnormality of the dentition; Anonychia; | Female | Yes | Yes | Proband |
| 226650.1.2 | Lebanon | Abnormal blistering of the skin; Alopecia; Abnormality of the dentition; Anonychia; | Female | Yes | Yes | Sister of 226650.1.1 |
| 226650.1.3 | Lebanon | Abnormal blistering of the skin; Alopecia; Abnormality of the dentition; Anonychia; | Female | Yes | Yes | Sister of 226650.1.1 |
| 226650.1.5 | Lebanon | Female | Yes | Mother of 226650.1.1 |