Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004273.5:c.665G>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 143095.5 | Saudi Arabia | Intrauterine growth retardation; Short stature; Accelerated skeletal maturation; Congenital knee dislocation; Congenital hip dislocation; Dislocated radial head; Limited elbow extension; Scoliosis | No | Yes | ||
| 143095.6 | Saudi Arabia | Growth delay; Joint dislocation; Talipes equinovarus; Limited elbow extension; Camptodactyly | Yes |