OBO ID: DOID:0111492
Term Name: combined oxidative phosphorylation deficiency 32 Search Ontology:
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 MRPS34 on chromosome 16p13.3. https://www.ncbi.nlm.nih.gov/pubmed/28777931
References:
Ontology: Human Disease   (DOID:0111492)
OTHER combined oxidative phosphorylation deficiency 32 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MRPS34 Combined oxidative phosphorylation deficiency 32 617664
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None