Term Name: | nuclear type mitochondrial complex I deficiency 20 |
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Synonyms: | ACAD9 deficiency, Acyl-CoA dehydrogenase 9 deficiency, MC1DN20, mitochondrial complex 1 deficiency due to ACAD9 deficiency |
Definition: | A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3. |
Ontology: | Human Disease [DOID:0112072] ( DOID:0112072 ) |