combined oxidative phosphorylation defect type 7
Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.
MONDO:0000732
combined oxidative phosphorylation deficiency
is_a
C12ORF65 combined oxidative phosphorylation deficiency
exact
C12orf65 combined oxidative phosphorylation deficiency
exact
COXPD7
exact
combined oxidative phosphorylation deficiency 7
related
combined oxidative phosphorylation deficiency caused by mutation in C12ORF65
exact
combined oxidative phosphorylation deficiency caused by mutation in C12orf65
exact
combined oxidative phosphorylation deficiency type 7
exact
severe C12ORF65-related COXPD
exact
severe C12ORF65-related combined oxidative phosphorylation defect
exact
SPBC1105.18c