Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_015311.3:c.1119G>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 612921.1.1 | Oman | Intrauterine growth retardation; Short stature; Macrocephaly; Abnormal facial shape; Clinodactyly | Male | Yes | Yes | Emirati family of omani origin. Six affected children |
| 612921.1.2 | Oman | Intrauterine growth retardation; Short stature; Macrocephaly; Abnormal facial shape; Clinodactyly | Male | Yes | Yes | Sibling of 612921.1.1 |
| 612921.1.3 | Oman | Intrauterine growth retardation; Short stature; Macrocephaly; Abnormal facial shape; Clinodactyly | Female | Yes | Yes | Sibling of 612921.1.1 |
| 612921.1.5 | Oman | Female | Mother of 612921.1.1 |