Female
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 |
|---|---|---|---|---|---|---|
| 619055.11.2 | Lebanon | Global developmental delay; Failure to thrive; Hypotonia; Recurrent upper respiratory tract infections; Increased serum lactate; Metabolic acidosis | Male | Yes | Yes | Brother of proband ('Family B' in the publication), died at the age of 8 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) |