Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_031471.6:c.48G>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 612840.1.1 | United Arab Emirates | Abnormal bleeding; Recurrent infections; Leukocytosis; Lymphadenitis; Hepatosplenomegaly; Osteopetrosis; Intracranial hemorrhage | Male | No | 'Subject 1' in the publication | |
| 612840.1.2 | United Arab Emirates | Abnormal bleeding; Recurrent infections; Leukocytosis; Hepatosplenomegaly; Osteopetrosis; Intracranial hemorrhage | Female | No | 'Subject 2' in the publication | |
| 612840.1.3 | United Arab Emirates | Male | Father of 612840.1.1 & 612840.1.2 |