mitochondrial complex III deficiency nuclear type 1

Term ID

DOID:0080111

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. http://omim.org/entry/124000?search=124000&highlight=124000

References

• OMIM:124000

Ontology

Human Disease   ( DOID:0080111 )