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Human Disease

combined oxidative phosphorylation deficiency 14

Term ID
DOID:0111477
Synonyms
  • COXPD14
Definition
A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1. (2)
References
Ontology
Human Disease   ( DOID:0111477 )
Relationships
is a type of
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Genes Involved
Zebrafish Models