Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodegeneration in Early Childhood |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 |
R-numbers: R54 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 |