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References OMIM Gene GeneReviews HGMD HGNC
last update : 11-05-2017
Symbol PCH1B
Location 9p13.2
Name pontocerebellar hypoplasia, type 1B
Corresponding gene EXOSC3
Main clinical features
  • dysmorphic facies, foot deformities, poor feeding, and respiratory insufficiency, with early death
  • severe cerebellar atrophy with absent granular layer, decreased number of Purkinje cells, white matter gliosis, and a paucity of axons; skeletal muscle showed neurogenic atrophy
  • spinal cord examination showed decreased numbers of anterior horn cells
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease