Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_012160.4:c.1303C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615471.3.1 | Lebanon | Neurodevelopmental delay; Generalized hypotonia; Abnormal facial shape; Anemia; Thrombocytosis | Female | Yes | ||
| 615471.3.2 | Lebanon | Female | Mother of 615471.3.1 |