Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001278716.2:c.1444C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615471.6.1 | Saudi Arabia | Global developmental delay; Lactic acidosis; Organic aciduria; Generalized hypotonia | Male | Yes | Yes | |
| 615471.6.3 | Saudi Arabia | Global developmental delay; Lactic acidosis; Organic aciduria; Generalized hypotonia; Seizure; Gastroesophageal reflux | Male | Yes | Yes | Sibling of 615471.6.1 |