Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000157.4:c.1228C>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 230800.3.1 | Lebanon | Anemia; Thrombocytopenia; Fatigue; Oral bleeding; Splenomegaly; Hepatomegaly; Osteopenia; Bone pain | Male | Yes | Yes | Proband |
| 230800.3.2 | Lebanon | Anemia; Thrombocytopenia; Hepatosplenomegaly; Osteopenia; | Male | Yes | Yes | Brother of 230800.3.1 |
| 230800.3.3 | Lebanon | Anemia; Thrombocytopenia; Oral bleeding; Splenomegaly; Hepatomegaly; Purpura; Bone pain | Male | Yes | Yes | Brother of 230800.3.1 |
| 230800.3.4 | Lebanon | Splenomegaly; Osteopenia | Male | Yes | Yes | Nephew of 230800.3.1 |
| 230800.3.5 | Lebanon | Hypotonia; Hyperreflexia; Growth delay; Delayed ability to walk; Strabismus; Splenomegaly; Peripheral neuropathy | Female | Yes | Yes | Niece of 230800.3.1, Sister of 230800.3.4 |