has material basis in germline mutation in MTFMT combined oxidative phosphorylation deficiency combined oxidative phosphorylation defect type 15 https://www.malacards.org/card/combined_oxidative_phosphorylation_deficiency_15 combined oxidative phosphorylation defect type 15 GARD:0017456 Orphanet:319524 SCTID:763203009 MONDO:0013987 UMLS:C4706313 combined oxidative phosphorylation deficiency 15 combined oxidative phosphorylation deficiency type 15 MEDGEN:1646555 COXPD15 MTFMT combined oxidative phosphorylation deficiency Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported. combined oxidative phosphorylation deficiency caused by mutation in MTFMT OMIM:614947 DOID:0111491