Term Name: nuclear type mitochondrial complex I deficiency 20
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 )

Relationships
is a type of: autosomal recessive disease nuclear type mitochondrial complex I deficiency