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Summary Literature (0)
MIM:615578 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18; COXPD18

Xenbase Genes: sfxn4

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014261 - growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

Disease Ontology (DO):
DOID:0060286 - combined oxidative phosphorylation deficiency
DOID:0111484 - combined oxidative phosphorylation deficiency 18