Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_198129.2:c.4299dup | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 226700.2.1 | Lebanon | Abnormal blistering of the skin; Nail dystrophy; Growth delay | Female | Yes | Yes | |
| 226700.2.3 | Lebanon | Female | Mother of 226700.2.1 |