Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001040436.3:c.156C>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613561.4.1 | Lebanon | Lactic acidosis; Anemia; Ventricular hypertrophy; Hepatomegaly; Cerebral atrophy; Neonatal death | Female | No | No | Two subsequent pregnancies of the mother were terminated after a positive PGD |
| 613561.4.2 | Lebanon | Female | Mother of 613561.4.1 |