Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001017535.1:c.1171C>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277440.3.1 | Lebanon | Hypocalcemia ; Alopecia totalis ; Bilateral tonic-clonic seizure with generalized onset ; Subcutaneous nodule ; Broad carpal bones ; Bowing of the legs ; Rachitic rosary | Male | Yes | Yes | Proband |
| 277440.3.3 | Lebanon | Male | Yes | Yes | Unaffected father of 277440.3.1 | |
| 277440.3.4 | Lebanon | Female | Yes | Yes | Unaffected mother of 277440.3.1 |