Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001171155.2:c.3G>C | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 619055.11.1 | Lebanon | Seizure; Global developmental delay; Failure to thrive; Hypotonia; Increased serum lactate; Respiratory insufficiency | Female | Yes | Yes | Proband from 'Family B' in the publication, died at the age of 15 months |
| 619055.11.3 | Lebanon | Male | Father of proband ('Family B' in the publication) | |||
| 619055.11.4 | Lebanon | Female | Mother of proband ('Family B' in the publication) |