Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000285.4:c.549-1G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 170100.2 | Lebanon | Skin ulcer; Microcytic anemia; Hypochromic anemia; Thrombocytopenia; Arterial stenosis; Hepatosplenomegaly; Vertebral fusion; Abnormal facial shape; Intellectual disability, mild | Female | Yes | Yes | Sibling of 170100.1 |