Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000108.5:c.685G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 246900.1.1 | Palestine | Death in infancy; Episodic vomiting; Encephalopathy | Female | Yes | Yes | The patient had two older siblings that had died under similar circumstances |