Female
| 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 |
|---|---|---|---|---|---|---|
| 246900.3 | Saudi Arabia | Respiratory distress; Left ventricular hypertrophy; Inguinal hernia; Lactic acidosis; Elevated hepatic transaminase | Male | Yes | ||
| 246900.4 | Saudi Arabia | Lactic acidosis; Nystagmus; Sensorineural hearing impairment; Hyperalaninemia | Male | Yes | ||
| 246900.5 | Saudi Arabia | Vomiting; Seizure; Hypoglycemia; Global developmental delay; Oculomotor apraxia; Sensorineural hearing impairment; Lactic acidosis; Elevated hepatic transaminase; Hyperammonemia | Male | Yes |