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Summary Literature (0)
MIM:615395 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16; COXPD16

Xenbase Genes: mrpl44

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014162 - infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

Disease Ontology (DO):
DOID:0060286 - combined oxidative phosphorylation deficiency
DOID:0111469 - combined oxidative phosphorylation deficiency 16