Summary Literature (0)

DOID:0080111 - mitochondrial complex III deficiency nuclear type 1

Disease Ontology Definition:A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35.

Synonyms:

Echinobase Genes : bcs1l


OMIM:

MIM:124000 - mitochondrial complex iii deficiency, nuclear type 1; mc3dn1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee