combined oxidative phosphorylation defect type 15

Rare Disease

MONDO:0013987

Also Known As

COXPD15MTFMT combined oxidative phosphorylation deficiencycombined oxidative phosphorylation defect type 15combined oxidative phosphorylation deficiency caused by mutation in MTFMTcombined oxidative phosphorylation deficiency type 15combined oxidative phosphorylation deficiency 15

Definition

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.