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Metadata
ID DOID:0050719
Name cerebral folate receptor alpha 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.
http://en.wikipedia.org/wiki/B_vitamins, https://www.ncbi.nlm.nih.gov/pubmed/19732866
Xrefs

MIM:613068

Synonyms

Neurodegeneration due to cerebral folate transport deficiency [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a vitamin metabolic disorder

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