has material basis in germline mutation in MTRFR combined oxidative phosphorylation deficiency combined oxidative phosphorylation defect type 7 https://www.malacards.org/card/combined_oxidative_phosphorylation_deficiency_7 C12ORF65 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency 7 combined oxidative phosphorylation deficiency caused by mutation in C12ORF65 OMIM:613559 combined oxidative phosphorylation deficiency 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. combined oxidative phosphorylation deficiency caused by mutation in C12orf65 severe C12ORF65-related COXPD SCTID:763204003 GARD:0017234 severe C12ORF65-related combined oxidative phosphorylation defect C12orf65 combined oxidative phosphorylation deficiency Orphanet:254930 MONDO:0013306 COXPD7 MEDGEN:462151 DOID:0111487 UMLS:C3150801