Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001017535.1:c.1171C>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277440.2.1 | Lebanon | Hypocalcemia ; Rickets ; Alopecia ; Waddling gait ; Metaphyseal irregularity | Female | Yes | Yes | Proband |
| 277440.2.3 | Lebanon | Female | Yes | Unaffected mother of 277440.2.1 |