Female
Yes
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 |
|---|---|---|---|---|---|---|
| 231680.2.1 | United Arab Emirates | Episodic vomiting; Abdominal pain; Nausea; Metabolic acidosis; Hypoglycemia; Seizure; Glutaric aciduria | Female | Yes | Yes | |
| 231680.2.2 | United Arab Emirates | Episodic vomiting; Nausea; Epigastric pain; Metabolic acidosis | Female | Yes | Yes | Sibling of 231680.2.1 |
| 231680.2.4 | United Arab Emirates | Glutaric aciduria; Episodic vomiting; Heart murmur | Male | Yes | Yes | Sibling of 231680.2.1. Mild presentation |