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GENATLAS PHENOTYPE
last update : 18-04-2014
Symbol CDCBM5
Location 6p25.2
Name cortical dysplasia with other brain malformations-5
Other name(s) lissencephaly 4
Corresponding gene TUBB2A
Other symbol(s) LIS4
Main clinical features
  • infantile spasms and at EEG hypsarrhythmia.
  • at brain MRI, diffuse simplified gyral pattern with reduced volume of white matter, globular basal ganglia, and thalami, moderately enlarged third and lateral ventricles, thin and dysmorphic corpus callosum, mild brainstem hypoplasia
  • seizures and global developmental delay, mental retardation
  • Genetic determination
    Function/system disorder
    Type disease
    Remark(s)