Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000376.3:c.821G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277440.5.1 | United Arab Emirates | Hypocalcemia ; Broad carpal bones ; Rachitic rosary ; Rickets ; Respiratory tract infection ; Hypophosphatemia | Male | Yes | Yes | Proband |
| 277440.5.2 | United Arab Emirates | Male | Yes | Unaffected father of 277440.5.1 |