Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004836.7:c.1570_1573del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 226980.5 | United Arab Emirates | Diabetes mellitus; Hepatic failure; Pancytopenia; Skeletal dysplasia | Male | No |