CEREBRAL FOLATE DEFICIENCY DUE TO FOLR1 AUTOANTIBODIES (CFD) | |
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OMIM = Online Mendelian Inheritance of Men | |
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--- Detail information to gene locus by the National Center for Biotechnology Information NCBI: |
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Laboratory findings | 5-Methyltetrahydrofolate (5-MTHF) dec (urine) |
Symptoms | ataxia demyelinisation dyskinesia epilepsy hearing defect, deafness lethargy, drowsiness, apathy microcephaly (<2 SD for age) onset, adolescent onset, childhood onset, infancy psychomotor retardation spastic paraplegia vision loss |