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GENATLAS PHENOTYPE
last update : 03-04-2013
Symbol PCH8
Location 16q24.3
Name pontocerebellar hypoplasia, type 8
Corresponding gene CHMP1A
Main clinical features
  • neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects
  • brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)
  • CHMP1A-mutant cells show impaired proliferation, with increased expression of CDKN2A, a negative regulator of stem cell proliferation (PMID: 23023333))