Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006371.5:c.561T>G | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610682.1 | Saudi Arabia | Skeletal dysplasia; Wide anterior fontanel; Micrognathia; Hand polydactyly; Narrow chest | Male | Yes | Yes |