has material basis in germline mutation in PNPT1 combined oxidative phosphorylation deficiency combined oxidative phosphorylation defect type 13 https://www.malacards.org/card/combined_oxidative_phosphorylation_deficiency_13 GARD:0017454 SCTID:763110007 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. PNPT1 combined oxidative phosphorylation deficiency MEDGEN:1631854 combined oxidative phosphorylation deficiency 13 combined oxidative phosphorylation deficiency type 13 COXPD13 DOID:0111467 Orphanet:319514 UMLS:C4706283 combined oxidative phosphorylation deficiency caused by mutation in PNPT1 OMIM:614932 MONDO:0013977