Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001916.5:c.288G>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615453.1.1 | Lebanon | Metabolic ketoacidosis; Lactic acidosis; Hyperammonemia | Male | Yes | ||
| 615453.1.3 | Lebanon | Male | Mother of 615453.1.1 |