Term Name: | cerebral folate receptor alpha deficiency |
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Synonyms: | Neurodegeneration due to cerebral folate transport deficiency |
Definition: | A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy. |
Ontology: | Human Disease [DOID:0050719] ( DOID:0050719 ) |