Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000346.3:c.507C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 114290.1.1 | Lebanon | Global developmental delay; Short stature; Abnormal facial shape; Nail dysplasia; Marked delay in bone age; Radial head subluxation; Abnormality of epiphysis morphology | Female | No | Yes |