Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple mitochondrial dysfunctions syndrome 4 616370 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes infantile neurodegenerative mitochondrial disorder |
Green in Optic neuropathyR-numbers: R41 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple mitochondrial dysfunctions syndrome 4, OMIM:616370, optic atrophy, MONDO:0003608 |
R-numbers: R63 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370 |
R-numbers: R316 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370 |
Component of the following Super Panels:
Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple mitochondrial dysfunctions syndrome 4, OMIM:616370 |