Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000170.3:c.52G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 605899.2.2 | Lebanon | Intellectual disability; Hyperammonemia | Male | Yes | Yes | Sibling of 605899.2.1 |