619055.1.1 | Lebanon | 2 | | Pathogenic | Mitochondrial Complex IV Deficiency, Nuclear Type 12 | Lim et al, 2014 | |
619055.1.2 | Lebanon | 1 | | Pathogenic | | Lim et al, 2014 | Unaffected father of 619055.1.1 |
619055.1.3 | Lebanon | 1 | | Pathogenic | | Lim et al, 2014 | Unaffected mother of 619055.1.1 |
619055.2.1 | Lebanon | 2 | | Pathogenic | Mitochondrial Complex IV Deficiency, Nuclear Type 12 | Lim et al, 2014 | The patient had four older siblings that... |
619055.2.2 | Lebanon | 1 | | Pathogenic | | Lim et al, 2014 | Unaffected father of 619055.2.1 |
619055.2.3 | Lebanon | 1 | | Pathogenic | | Lim et al, 2014 | Unaffected mother of 619055.2.1 |
619055.3.1 | Lebanon | 2 | | Pathogenic | Mitochondrial Complex IV Deficiency, Nuclear Type 12 | Lim et al, 2014 | The patient had an older brother suggest... |
619055.3.2 | Lebanon | 1 | | Pathogenic | | Lim et al, 2014 | Unaffected father of 619055.3.1 |
619055.3.3 | Lebanon | 1 | | Pathogenic | | Lim et al, 2014 | Unaffected mother of 619055.3.1 |
619055.4.1 | Lebanon | 2 | | Pathogenic | Mitochondrial Complex IV Deficiency, Nuclear Type 12 | Lim et al, 2014 | |
619055.4.2 | Lebanon | 2 | | Pathogenic | Mitochondrial Complex IV Deficiency, Nuclear Type 12 | Lim et al, 2014 | Brother of 619055.4.1 |
619055.4.3 | Lebanon | 1 | | Pathogenic | | Lim et al, 2014 | Unaffected father of 619055.4.1 |
619055.4.4 | Lebanon | 1 | | Pathogenic | | Lim et al, 2014 | Unaffected mother of 619055.4.1 |
619055.5.1 | Lebanon | 2 | | Pathogenic | Mitochondrial Complex IV Deficiency, Nuclear Type 12 | Lim et al, 2014 | |
619055.5.2 | Lebanon | 2 | | Pathogenic | | Lim et al, 2014 | Brother of 619055.5.1 |
619055.5.3 | Lebanon | 1 | | Pathogenic | | Lim et al, 2014 | Unaffected father of 619055.5.1 |
619055.5.4 | Lebanon | 1 | | Pathogenic | | Lim et al, 2014 | Unaffected mother of 619055.4.1 |
619055.6.1 | Lebanon | 2 | | Pathogenic | Mitochondrial Complex IV Deficiency, Nuclear Type 12 | Lim et al, 2014 | |
619055.6.2 | Lebanon | 1 | | Pathogenic | | Lim et al, 2014 | Unaffected father of 619055.6.1 |
619055.6.3 | Lebanon | 1 | | Pathogenic | | Lim et al, 2014 | Unaffected mother of 619055.6.1 |
619055.7.1 | Lebanon | 2 | | Pathogenic | Mitochondrial Complex IV Deficiency, Nuclear Type 12 | Lim et al, 2014 | |
619055.7.2 | Lebanon | 1 | | Pathogenic | | Lim et al, 2014 | Unaffected father of 619055.7.1 |
619055.7.3 | Lebanon | 1 | | Pathogenic | | Lim et al, 2014 | Unaffected mother of 619055.7.1 |
619055.8.1 | Lebanon | 2 | | Pathogenic | Mitochondrial Complex IV Deficiency, Nuclear Type 12 | Lim et al, 2014 | |
619055.8.2 | Lebanon | 1 | | Pathogenic | | Lim et al, 2014 | Unaffected father of 619055.8.1 |
619055.8.3 | Lebanon | 1 | | Pathogenic | | Lim et al, 2014 | Unaffected mother of 619055.8.1 |
619055.9 | Lebanon | 1 | | Likely Pathogenic | Mitochondrial Complex IV Deficiency, Nuclear Type 12 | Jalkh et al. 2019 | |
619055.10.1 | Lebanon | 2 | NA | Pathogenic | Mitochondrial Complex IV Deficiency, Nuclear Type 12 | Mansour et al, 2019 | Proband from 'Family A' in the publicati... |
619055.10.2 | Lebanon | 2 | NA | Pathogenic | Mitochondrial Complex IV Deficiency, Nuclear Type 12 | Mansour et al, 2019 | Brother of proband ('Family A' in the pu... |
619055.10.3 | Lebanon | 1 | NA | | | Mansour et al, 2019 | Father of proband ('Family A' in the pub... |
619055.10.4 | Lebanon | 1 | NA | | | Mansour et al, 2019 | Mother of proband ('Family A' in the pub... |
619055.11.1 | Lebanon | 2 | NA | Pathogenic | Mitochondrial Complex IV Deficiency, Nuclear Type 12 | Mansour et al, 2019 | Proband from 'Family B' in the publicati... |
619055.11.2 | Lebanon | 2 | NA | Pathogenic | Mitochondrial Complex IV Deficiency, Nuclear Type 12 | Mansour et al, 2019 | Brother of proband ('Family B' in the pu... |
619055.11.3 | Lebanon | 1 | NA | | | Mansour et al, 2019 | Father of proband ('Family B' in the pub... |
619055.11.4 | Lebanon | 1 | NA | | | Mansour et al, 2019 | Mother of proband ('Family B' in the pub... |
619055.12 | Lebanon | 2 | | Pathogenic | Mitochondrial Complex IV Deficiency, Nuclear Type 12 | Riley et al. 2020 | Proband. Parents are first cousins. A pa... |