Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004273.5:c.776T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 143095.4 | Syria | Short stature; Knee dislocation; Congenital bilateral hip dislocation; Downslanted palpebral fissures | Female | Yes | ||
| 143095.5 | Syria | Intrauterine growth retardation; Short stature; Accelerated skeletal maturation; Congenital knee dislocation; Congenital hip dislocation; Dislocated radial head; Limited elbow extension; Scoliosis | No | Yes |