combined oxidative phosphorylation defect type 13
Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.
MONDO:0000732
combined oxidative phosphorylation deficiency
is_a
COXPD13
exact
PNPT1 combined oxidative phosphorylation deficiency
exact
combined oxidative phosphorylation deficiency 13
related
combined oxidative phosphorylation deficiency caused by mutation in PNPT1
exact
combined oxidative phosphorylation deficiency type 13
exact