Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
R-numbers: R57 Signed-off version 3.56 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes LEIGH SYNDROME 256000, MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 |
R-numbers: R356 Signed-off version 3.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.114 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 3.44 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 |
R-numbers: R63 Signed-off version 3.69 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 |
Component of the following Super Panels:
Signed-off version 3.24 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119, Mitochondrial Leukoencephalopathy |