Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | MITOCHONDRIAL | Phenotypes |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 8.0 | MITOCHONDRIAL | Phenotypes |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.57 | MITOCHONDRIAL | Phenotypes MERRF/MELAS OVERLAP SYNDROME, MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL, DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES, INCLUDED, EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA |