Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_015311.3:c.682insTT | 1 | |||
| NM_015311.3:c.690delC | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 612921.2.1 | Jordan | Intrauterine growth retardation; Short stature; Abnormal facial shape; Macrocephaly; Clinodactyly | Female | Yes | Yes | |
| 612921.2.2 | Jordan | Intrauterine growth retardation; Short stature; Abnormal facial shape; Macrocephaly; Clinodactyly | Male | Yes | Yes | Sibling of 612921.2.1 |
| 612921.2.3 | Jordan | Intrauterine growth retardation; Short stature; Abnormal facial shape; Macrocephaly; Clinodactyly | Male | Yes | Yes | Sibling of 612921.2.1 |
| 612921.2.5 | Jordan | Female | Moher of 612921.2.1 |