Autosomal recessive | Alpers–Huttenlocher syndrome | | Liver dysfunction | 0–10 |
Occipital epilepsy |
Encephalopathy |
Syndrome of sensory ataxic neuropathy with ophthalmoparesis (SANDO) | Autosomal recessive progressive external ophthalmoplegia (arPEO) | Progressive external ophthalmoplegia | 40–70 |
Axonal sensorimotor neuropathy |
Myopathy |
Mitochondrial recessive ataxia syndrome (MIRAS) | Myoclonus, epilepsy, myopathy and sensory ataxia (MEMSA) | Occipital epilepsy | 0–30 |
Myoclonus |
Ataxia |
Ataxia neuropathy spectrum syndrome (ANS) | Ataxia |
Axonal sensorimotor neuropathy |
Myocerebrohepatopathy syndrome (MCHS) | Encephalopathy |
Myopathy |
Liver dysfunction |
Autosomal dominant | Autosomal dominant progressive external ophthalmoplegia (adPEO) | | Progressive external ophthalmoplegia | 40–70 |
Parkinsonism |
Premature ovarian failure |