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 )

Relationships
is a type of: autosomal recessive disease combined oxidative phosphorylation deficiency