Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NDUFAF8-related Leigh Syndrome |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 |
R-numbers: R353 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.114 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 |
R-numbers: R63 Signed-off version 3.69 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 |