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GENATLAS PHENOTYPE
last update : 23-10-2018
Symbol SICACCH
Location 7q22.1
Name infantile spasms, cerebellar abnormalities, corpus callosum hypoplasia
Corresponding gene KPNA7
Main clinical features
  • severe developmental disability, infantile spasms, subsequent intractable epilepsy consistent with Lennox-Gastaut syndrome, partial agenesis of the corpus callosum, and cerebellar vermis hypoplasia
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)