| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000404.3:c.1336G>T | 6 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 230500.G.2 | United Arab Emirates | 7 patients from an Emirati family | ||||
| 230500.G.3 | United Arab Emirates | 6 Palestinian patients with infantile onset of the disease |