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combined oxidative phosphorylation deficiency 16
Summary
- Synonym
-
- COXPD16
- infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compund heterozygous mutation in the MRPL44 gene on chromosome 2q36.1.
- Super Class
- autosomal recessive disease combined oxidative phosphorylation deficiency
External Links
- Disease Ontology
- DOID:0111469
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
