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References OMIM Gene GeneReviews HGMD HGNC
last update : 19-10-2017
Symbol PCH4
Location 17q25.1
Name pontocerebellar hypoplasia 4
Corresponding gene TSEN54
Main clinical features
  • heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem; is characterized by severe course and early lethality
  • neonatal encephalopathy manifested clinically by microcephaly, myoclonus, and muscular hypertonia, with early death
  • Genetic determination
    Related entries including PCH5 (PMID: 610204)
    Function/system disorder
    Type disease