cerebral folate receptor alpha deficiency (DOID:0050719)
Alliance: disease page
Synonyms: Neurodegeneration due to cerebral folate transport deficiency
Alt IDs: OMIM:613068
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.