Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005807.6:c.3139_3140del | 1 | |||
| NM_005807.6:c.4078A>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 208250.1.2 | Saudi Arabia | Camptodactyly; Arthropathy; Pain ; Abnormality of femur morphology; Osteoporosis; Coxa vara | Male | Yes | No | Patient 1b in the publication, brother of 208250.1.1 |
| 208250.1.3 | Saudi Arabia | Camptodactyly; Arthropathy; Pain ; Abnormality of femur morphology; Osteoporosis; Coxa vara | Male | Yes | No | Patient 1c in the publication, brother of 208250.1.1 |