combined oxidative phosphorylation deficiency 19

Term ID

DOID:0111476

Synonyms

• COXPD19
• severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency

Definition

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1. https://www.ncbi.nlm.nih.gov/pubmed/23814038

References

• OMIM:615595
• ORDO:397593

Ontology

Human Disease   ( DOID:0111476 )