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

• OMIM:614946
• ORDO:319519

Ontology

Human Disease   ( DOID:0111477 )