GTR Home > Conditions/Phenotypes > Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2


mutation 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. [from ORDO]

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66 tests are in the database for this condition.

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  • Also known as: MC5DN2, TMEM70
    Summary: transmembrane protein 70

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