label: mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
label_lc: mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency
description: 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.