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CEREBRAL FOLATE DEFICIENCY DUE TO FOLR1 AUTOANTIBODIES (CFD)

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:
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