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Summary
CEREBRAL FOLATE DEFICIENCY DUE TO FOLR1 AUTOANTIBODIES (CFD)
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OMIM = Online Medalian Inheritance of Men
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Detail information to gene locus by the National Center for Biotechnology Information NCBI:
symptoms
ataxia
demyelinisation
dyskinesia
epilepsy
hearing defect, deafness
lethargy, drowsiness, malaise or sleep disorder
microcephaly (<2 SD for age)
onset, adolescent
onset, childhood
onset, infancy
psychomotor retardation
spastic paraplegia
vision loss
laboratory finding
5-Methyltetrahydrofolate (5-MTHF) nmol/lurine
Literature
Mudd SHHypermethioninemias of genetic and non-genetic origin: A reviewAm J Med Genet C Semin Med Genet15713-322011
Mudd SHHypermethioninemias of genetic and non-genetic origin: A reviewAm J Med Genet C Semin Med Genet15713-322011