Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_153240.5:c.2694-2_2694-1del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 267010.2.1 | Saudi Arabia | Female | Mother of 267010.2.G | |||
| 267010.2.G | Saudi Arabia | Renal agenesis; Polydactyly | Unknown | Yes | Two deceased neonates |