Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005807.6:c.1320dup |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 208250.G.1.1 | United Arab Emirates | Camptodactyly; Flexion contracture of finger; Joint swelling; Pain; Coxa vara; Abnormality of femur morphology | Yes | Yes | 4 patients from two branches of a consanguineous family |