Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 18

Term ID
DOID:0111484
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 the SFXN4 gene on chromosome 10q26.11. https://www.ncbi.nlm.nih.gov/pubmed/24119684
References
Ontology
Human Disease   ( DOID:0111484 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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