Term Name: | peroxisomal acyl-CoA oxidase deficiency |
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Synonyms: | Peroxisomal acyl-coenzyme A oxidase |
Definition: | A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1. |
Ontology: | Human Disease [DOID:0050797] ( DOID:0050797 ) |