Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005529.7:c.11208-7G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 255800.3 | Saudi Arabia | Skeletal dysplasia; Short stature; Intrauterine growth retardation; Epicanthus | Male | Yes |