Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016277.4:c.482-1G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 201000.1.1 | United Arab Emirates | Abnormality of head or neck; Brachydactyly; Cutaneous syndactyly; Preaxial foot polydactyly; Mild global developmental delay | Male | Yes | Yes | |
| 201000.1.3 | United Arab Emirates | Male | Yes | No | Unaffected father of 201000.1.1 | |
| 201000.1.4 | United Arab Emirates | Female | Yes | No | Unaffected mother of 201000.1.1 | |
| 201000.1.5 | United Arab Emirates | Male | Yes | No | Unaffected brother of 201000.1.1 |