Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004453.4:c.807A>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 231680.1 | United Arab Emirates | Metabolic acidosis; Encephalopathy; Hyperammonemia; Episodic vomiting | Male | Yes | ||
| 231680.4 | United Arab Emirates | Glutaric aciduria; Double aortic arch | Male | Yes | Mild presentation | |
| 231680.5 | United Arab Emirates | Glutaric aciduria | Female | No | Asymptomatic | |
| 231680.6 | United Arab Emirates | Glutaric aciduria; Myopathy; Hypoglycemia; Episodic vomiting; Nausea; Hepatitis | Male |