Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005807.6:c.3277_3278del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 208250.4.2 | Saudi Arabia | Camptodactyly; Arthropathy; Abnormality of femur morphology; Osteoporosis; Coxa vara; Pain | Female | Yes | Yes | Patient 4b in the publication, sister of 208250.4.1 |