Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001168370.2:c.203G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 273750.1.1 | Jordan | Intrauterine growth retardation; Short stature; Macrocephaly; Abnormal facial shape; Clinodactyly | Female | Yes | Yes | |
| 273750.1.2 | Jordan | Short stature; Macrocephaly; Abnormal facial shape; Clinodactyly; Slender long bone | Male | Yes | Yes | Sibling of 273750.1.1 |
| 273750.1.3 | Jordan | Short stature; Macrocephaly; Abnormal facial shape; Clinodactyly; Slender long bone | Male | Yes | Yes | Sibling of 273750.1.1 |
| 273750.1.5 | Jordan | Female | Mother of 273750.1.1 | |||
| 273750.1.6 | Jordan | Male | Father of 273750.1.1 |