Term Name: | combined oxidative phosphorylation deficiency 16 |
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Synonyms: | COXPD16, infantile hypertrophic cardiomyopathy due to MRPL44 deficiency |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1. |
Ontology: | Human Disease [DOID:0111469] ( DOID:0111469 ) |