Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000019.4:c.86_87dup | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 203750.1 | United Arab Emirates | Metabolic ketoacidosis; Episodic ketoacidosis | Male | Yes | Patient of Armenian ethnicity |