Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 32

Term ID
DOID:0111492
Synonyms
  • COXPD32
Definition
A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3. https://www.ncbi.nlm.nih.gov/pubmed/28777931
References
Ontology
Human Disease   ( DOID:0111492 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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