Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_022336.3:c.803+1G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 224900.1.1 | Lebanon | Sparse hair; Aplasia/Hypoplasia of the sweat glands; Hypodontia; Hyperconvex nail; Palmoplantar hyperkeratosis; Aplasia/Hypoplasia of the breasts ; | Female | No | Yes | |
| 224900.1.2 | Lebanon | Female | Mother of 224900.1.1 |