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

• OMIM:615578
• ORDO:391348

Ontology

Human Disease   ( DOID:0111484 )