Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| TCN2, 2,152-BP DEL AND 4-BP INS | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 275350.1.1 | Lebanon | Hypotonia; Failure to thrive; Pancytopenia; Abnormal circulating homocysteine concentration; Methylmalonic aciduria; Megaloblastic bone marrow | Female | Yes | ||
| 275350.1.2 | Lebanon | Female | Mother of 275350.1.1 |