Male
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001171155.2:c.3G>C | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
619055.3.1 | Lebanon | Circumoral cyanosis; Lamellar cataract; Seizure; Abnormal cerebral white matter morphology; Increased CSF lactate; Increased serum lactate; Increased serum pyruvate; Thoracic scoliosis; Recurrent respiratory infections; Vegetative state | Female | No | No | The patient had an older brother suggested to have Rolandic seizures. |
619055.3.3 | Lebanon | Female | No | Unaffected mother of 619055.3.1 |