Female
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004826.4:c.1184+1G>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615065.3.1 | United Arab Emirates | Plagiocephaly; Abnormal facial shape; Webbed neck; Camptodactyly; Limited elbow extension; Limited knee flexion; Abnormality of the calf musculature; Scoliosis; Cryptorchidism | Male | No | Yes | Proband |
| 615065.3.2 | United Arab Emirates | Male | No | Father of 615065.3.1 |