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 |
---|---|---|---|---|---|---|
619055.2.1 | Lebanon | Global developmental delay; Hypotonia; Seizure; Status epilepticus; Failure to thrive; Abnormal cerebral white matter morphology; Increased CSF lactate; Increased serum lactate; Death in infancy | Male | No | Yes | The patient had four older siblings that had died within the first year of life without clear diagnoses but all had developmental delay and seizures. |
619055.2.3 | Lebanon | Female | No | Unaffected mother of 619055.2.1 |