|OBO ID: DOID:0112072|
|Term Name:||nuclear type mitochondrial complex I deficiency 20||Search Ontology:|
|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 ACAD9 on chromosome 3q21.3. (3)|
|Ontology:||Human Disease (DOID:0112072)|
|is a type of:||
OTHER nuclear type mitochondrial complex I deficiency 20 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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