Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001875.4:c.3558+1G>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 237300.1.1 | Lebanon | Hyperammonemia; Encephalopathy; Respiratory alkalosis; Dehydration; Increased intracranial pressure; Death in childhood ; | Male | Yes | Yes | |
| 237300.1.2 | Lebanon | Hyperammonemia; Confusion; Adult onset; | Male | Yes | Grandfather of 237300.1.1 | |
| 237300.1.3 | Lebanon | Female | Yes | Mother of 237300.1.1; Daughter of 237300.1.2 |