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Up to: Combined oxidative phosphorylation deficiency
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.
This condition has no sub-types.