Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_020638.3:c.367G>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617993.1.01 | Lebanon | Hyperphosphatemia ; Calcinosis | Female | Yes | No | Proband |
| 617993.1.02 | Lebanon | Male | Yes | No | Unaffected father of 617993.1.01, brother of 617993.1.07 | |
| 617993.1.03 | Lebanon | Female | Yes | No | Unaffected mother of 617993.1.01, sister of 617993.1.08 | |
| 617993.1.04 | Lebanon | Female | Yes | No | Unaffected sister of 617993.1.01 | |
| 617993.1.05 | Lebanon | Male | Yes | No | Unaffected brother of 617993.1.01 | |
| 617993.1.06 | Lebanon | Hyperphosphatemia ; Calcinosis | Female | Yes | No | Double first cousin of 617993.1.01 |
| 617993.1.07 | Lebanon | Male | Yes | No | Unaffected father of 617993.1.06, brother of 617993.1.02 | |
| 617993.1.08 | Lebanon | Female | Yes | No | Unaffected mother of 617993.1.06, sister of 617993.1.03 | |
| 617993.1.10 | Lebanon | Male | Yes | No | Unaffected brother of 617993.1.06 |