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last update : 29-08-2016
Symbol PCH10
Location 11q12.1
Name pontocerebellar hypoplasia, type 10
Corresponding gene CLP1
Main clinical features
  • neurodevelopmental and neurodegenerative disorder characterized by severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy and delayed myelination
  • limb spasticity with hypertonia and hyperreflexia, and a severe axonal sensorimotor neuropathy confirmed by electrophysiologic studies
  • brain MRI showed abnormalities of differing severities, such as cortical dysgenesis, simplified gyral pattern, cerebellar vermian loss, and thinning of the brainstem
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease