OBO ID: DOID:0111484
Term Name: combined oxidative phosphorylation deficiency 18 Search Ontology:
Synonyms:
  • COXPD18
  • growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Definition: A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in SFXN4 on chromosome 10q26.11. https://www.ncbi.nlm.nih.gov/pubmed/24119684
References:
Ontology: Human Disease   (DOID:0111484)
OTHER combined oxidative phosphorylation deficiency 18 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SFXN4 Combined oxidative phosphorylation deficiency 18 615578
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None