| Metadata | |
|---|---|
| ID | DOID:0080111 |
| Name | 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. http://omim.org/entry/124000?search=124000&highlight=124000 |
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