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.
MONDO:0000732
combined oxidative phosphorylation deficiency
is_a
COXPD10
exact
MTO1 combined oxidative phosphorylation deficiency
exact
combined oxidative phosphorylation defect type 10
exact
combined oxidative phosphorylation deficiency 10
related
combined oxidative phosphorylation deficiency caused by mutation in MTO1
exact
combined oxidative phosphorylation deficiency type 10
exact
mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
exact
SPBC30B4.06c