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References OMIM Gene GeneReviews HGMD HGNC
last update : 08-06-2018
Symbol PCH1C
Location 13q13.3
Name pontocerebellar hypoplasia, type 1C
Corresponding gene EXOSC8
Main clinical features
  • progressive and lethal neurological disease
  • cerebellar and corpus callosum hypoplasia, abnormal myelination of the central nervous system or spinal motor neuron disease
  • characterized by severe muscle weakness and failure to thrive apparent in the first months of life
  • affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure
  • brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease