Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000478.6:c.977G>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 241500.4 | Saudi Arabia | Bone pain; Muscle weakness; Infantile hypercalcemia; Low alkaline phosphatase | Unknown | Patient 'HPP104' in the publication. |