Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004560.4:c.574T>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 268310.3.1 | Egypt | Abnormal facial shape; Short stature; Dental crowding; Gingival overgrowth; Mesomelia; Reduced arm span; Brachydactyly; Ventricular septal defect | Male | No | Yes | |
| 268310.3.2 | Egypt | Male | Father of 268310.3.1 |