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References OMIM Gene GeneReviews HGMD HGNC
last update : 03-06-2009
Symbol PCH2B
Location 3p25.1
Name pontocerebellar hypoplasia 2B
Corresponding gene TSEN2
Main clinical features
  • heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem
  • characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease