Disease

mitochondrial complex III deficiency nuclear type 1

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
None
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

Associated Alleles

Associated Models