has material basis in germline mutation in TMEM70 mitochondrial respiratory chain complex deficiency mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 https://github.com/monarch-initiative/mondo/issues/8334 https://www.malacards.org/card/mitochondrial_complex_v_atp_synthase_deficiency_nuclear_type_2 mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency MONDO:0013546 OMIM:614052 DOID:0060331 3-MGCA type IV (3-MGCA-4) (formerly) MC5DN2 TMEM70 defect UMLS:C3279699 Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the TMEM70 gene. It is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency MEDGEN:481329 Orphanet:1194 GARD:0016561 MESH:C567528 mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 SCTID:718212006