Term Name:	combined oxidative phosphorylation deficiency 18
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.
Ontology:	Human Disease [DOID:0111484]   ( DOID:0111484 )