Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | MITOCHONDRIAL | Phenotypes mitochondrial disease, MONDO:0044970, Leber optic atrophy, OMIM:535000, myoclonic epilepsy associated with ragged-red fibers, OMIM:545000, fatal infantile respiratory enzyme deficiency, Inherited Diabetes Mellitus, adult onset mild myopathy |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 8.0 | MITOCHONDRIAL | Phenotypes mitochondrial disease, MONDO:0044970, Leber optic atrophy, OMIM:535000, myoclonic epilepsy associated with ragged-red fibers, OMIM:545000, fatal infantile respiratory enzyme deficiency, Inherited Diabetes Mellitus, adult onset mild myopathy |