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GENATLAS PHENOTYPE
last update : 26-08-2016
Symbol PCH2F
Location 1q25.3
Name pontocerebellar hypoplasia 2F
Corresponding gene TSEN15
Main clinical features
  • progressive microcephaly, delayed developmental milestones, intellectual disability, and epilepsy, no language development, axial hypotonia, appendicular hypertonia with spasticity, and hyperreflexia with extensor plantar response
  • at brain MRI, hypoplasia of the pons and cerebellum
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    mental retardation
    Type disease
    Remark(s)