Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001002029.3:c.(?_3231)_(3387_?)del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614379.3 | United Arab Emirates | Abnormal facial shape; Narrow palpebral fissure; Polydactyly; Syndactyly; Global developmental delay | Male | Yes |