combined oxidative phosphorylation deficiency 18 (DOID:0111484)
Alliance: disease page
Synonyms: COXPD18; growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Alt IDs: OMIM:615578, ORDO:391348
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.