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References OMIM Gene GeneReviews HGMD HGNC
last update : 19-10-2017
Symbol PCH2A
Location 17q25.1
Name pontocerebellar hypoplasia 2A
Corresponding gene TSEN54
Main clinical features
  • abnormally small cerebellum and brainstem, with progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings
  • lethal progressive neurologic disorder with prenatal onset and characteristic abnormalities on CT scanning (marked pontocerebellar hypoplasia and progressive cerebral atrophy)
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type malformation