Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_080605.4:c.556T>C | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615349.2 | Saudi Arabia | Short stature; Failure to thrive; Congenital hip dislocation; Camptodactyly of finger; Monkey wrench femoral neck; Kyphoscoliosis; Talipes equinovarus; Malar flattening; Narrow mouth; Proptosis | Yes | Yes |