Male
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 |
|---|---|---|---|---|---|---|
| 246900.3 | United Arab Emirates | Respiratory distress; Left ventricular hypertrophy; Inguinal hernia; Lactic acidosis; Elevated hepatic transaminase | Male | Yes | ||
| 246900.4 | United Arab Emirates | Lactic acidosis; Nystagmus; Sensorineural hearing impairment; Hyperalaninemia | Male | Yes | ||
| 246900.6 | United Arab Emirates | Delayed speech and language development; Ketosis; Hypoglycemia; Abnormal liver enzyme activity or concentration | Female |