has material basis in germline mutation in GFM1 combined oxidative phosphorylation deficiency hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 https://www.malacards.org/card/combined_oxidative_phosphorylation_deficiency_1 MESH:C563797 GFM1 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency 1 combined oxidative phosphorylation deficiency caused by mutation in GFM1 SCTID:764962002 combined oxidative phosphorylation deficiency type 1 Hepatoencephalopathy due to COXPD1 DOID:0111474 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement. GARD:0016949 MEDGEN:322999 Orphanet:137681 MONDO:0012191 COXPD1 UMLS:C1836797 NCIT:C125663 OMIM:609060