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 |
619055.11.2 | 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) |