Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000157.3:c.1448T>C | 1 | |||
| NM_000157.3:c.259C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 230800.2.2 | Lebanon | Hepatosplenomegaly; Failure to thrive; Anemia | Male | Yes | Yes | Nephew of 230800.2.1 |