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combined oxidative phosphorylation deficiency 21
Summary
- Synonym
-
- COXPD21
- Definition
- A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2.
- Super Class
- autosomal recessive disease combined oxidative phosphorylation deficiency
External Links
- Disease Ontology
- DOID:0111465
- Mondo Disease Ontology
- ORDO
- OMIM
