label: mitochondrial complex V (ATP synthase) deficiency nuclear type 2
label_lc: mitochondrial complex v (atp synthase) deficiency nuclear type 2
description: "A mitochondrial complex deficiency 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."