|OBO ID: DOID:0111619|
|Term Name:||combined D-2- and L-2-hydroxyglutaric aciduria||Search Ontology:|
|Definition:||A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A1 on chromosome 22q11.21. (3)|
|Ontology:||Human Disease (DOID:0111619)|
|is a type of:||
OTHER combined D-2- and L-2-hydroxyglutaric aciduria PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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