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| Term | cerebral folate receptor alpha deficiency | ID (Ontology) | DOID:0050719 (Human Disease) |
| 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. | ||
| Also Known As | "Neurodegeneration due to cerebral folate transport deficiency" | ||
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autosomal genetic disease |__autosomal recessive disease__ inherited metabolic disorder | |__vitamin metabolic disorder___| cerebral folate receptor alpha deficiency |
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vitamin metabolic disorder autosomal recessive disease |
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| MIM:613068 | |||