combined oxidative phosphorylation deficiency 53

Rare Disease

MONDO:0030378

Also Known As

COXPD53combined oxidative phosphorylation deficiency due to C2orf69 deficiency

An autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent hypomyelination.

Comprehensive, easy-to-understand information about this condition

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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