combined oxidative phosphorylation deficiency 32

Rare Disease

MONDO:0054654

Also Known As

combined oxidative phosphorylation deficiency 32COXPD32

Comprehensive, easy-to-understand information about this condition

Checking for content...

Gene data from MyGene.info • Click to view on NCBI Gene

severe X-linked mitochondrial encephalomyopathy

MONDO:0010437

hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

MONDO:0012191

combined oxidative phosphorylation defect type 2

MONDO:0012510

fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

MONDO:0012512

combined oxidative phosphorylation defect type 4

MONDO:0012534

hypotonia with lactic acidemia and hyperammonemia

MONDO:0012718