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last update : 17-10-2017
Symbol PCH11
Location 3q12.1
Name pontocerebellar hypoplasia, type 11
Corresponding gene TBC1D23
Main clinical features
  • neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging
  • generalized weakness, global hypotonia, and cerebellar deficits such as uncoordinated limb movement, hyporeflexia, and impaired or no ambulation
  • prenatal onset, and characterized by hypoplasia of pons and cerebellum
  • Brain MRI showed pontocerebellar hypoplasia in all subjects, along with thin corpus callosum and cortical hypoplasia in some
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s) . intracellular trafficking defects associated with TBC1D23 mutations (PMID: 28823707))