Term Name:	mitochondrial complex III deficiency nuclear type 1
Synonyms:
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.
Ontology:	Human Disease [DOID:0080111]   ( DOID:0080111 )