Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000298.5:c.1151C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 266200.1.1 | Lebanon | Jaundice; Hepatosplenomegaly; Reduced red cell pyruvate kinase level | Male | Yes | ||
| 266200.1.2 | Lebanon | Female | Mother of 266200.1.1 |