Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 56

Term ID
DOID:0070429
Synonyms
  • COXPD56
Definition
A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25. https://pubmed.ncbi.nlm.nih.gov/35321494/
References
Ontology
Human Disease   ( DOID:0070429 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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