Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017777.4:c.1126dup | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 249000.7 | Saudi Arabia | Polycystic kidney dysplasia; Encephalocele; Postaxial polydactyly | Unknown | |||
| 249000.8 | Saudi Arabia | Polycystic kidney dysplasia; Encephalocele; Postaxial polydactyly | Unknown | |||
| 249000.11 | Saudi Arabia | Occipital encephalocele; Polycystic kidney dysplasia; Hand Polydactyly | Male | Yes |