Female
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000094.3:c.188_189delinsC | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 226600.1.1 | Syria | Abnormal blistering of the skin; Oral mucosal blisters; Anonychia; Camptodactyly of finger; Mitten deformity | Female | No | Yes | |
| 226600.1.2 | Syria | Male | No | Father of 226600.1.1 |