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Summary Literature (0)
DOID:0111485 - combined oxidative phosphorylation deficiency 24

Disease Ontology Definition:A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1.

Synonyms: COXPD24

Xenbase Genes : nars2


MIM:
MIM:616239 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24; COXPD24

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), combined oxidative phosphorylation deficiency (is_a)