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combined oxidative phosphorylation deficiency 52
Summary
- Synonym
-
- COXPD52
- Definition
- A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11.
- Super Class
- autosomal recessive disease combined oxidative phosphorylation deficiency
External Links
- Disease Ontology
- DOID:0070425
- Mondo Disease Ontology
- OMIM
