Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001017535.1:c.1190A>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277440.1.1 | Lebanon | Hypocalcemia ; Spasticity ; Bilateral tonic-clonic seizure with generalized onset ; Osteoporosis ; Metaphyseal irregularity ; Respiratory tract infection ; Pneumonia ; Cardiac arrest ; Death in childhood ; Normal scalp hair growth | Male | Yes | Yes | Proband |
| 277440.1.3 | Lebanon | Female | Yes | Unaffected mother of 277440.1.1 |