Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004407.3:c.1A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 241520.2.2 | Lebanon | Hypophosphatemia; Generalized osteosclerosis; Thickened calvaria | Female | Yes | Yes | Sibling of 241520.2.1 |
| 241520.2.3 | Lebanon | Hypophosphatemia | Male | Yes | Yes | Sibling of 241520.2.1 |
| 241520.2.4 | Lebanon | Hypophosphatemic rickets | Male | Yes | Yes | Nephew of 241520.2.1 |
| 241520.2.5 | Lebanon | Male | Yes | Father of 241520.2.1 | ||
| 241520.2.6 | Lebanon | Female | Yes | Mother of 241520.2.1 | ||
| 241520.2.7 | Lebanon | Female | Yes | Mother of 241520.2.4 and sibling of 241520.2.1 | ||
| 241520.2.8 | Lebanon | Male | Yes | Father of 241520.2.4 |