Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_014028.4:c.36T>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
259720.3.2 | Lebanon | Anemia; Thrombocytopenia ; Increased bone mineral density; Death in childhood | Male | Yes | Yes | Sibling of 259720.3.1. Dizygotic female twin unaffected |