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GENATLAS PHENOTYPE
last update : 11-09-2019
Symbol EIEE39
Location 2q31.1
Name epileptic encephalopathy, early infantile, 39
Corresponding gene SLC25A12
Main clinical features
  • severe psychomotor retardation, hypotonia, and hypomyelination of the central nervous system
  • poor head control; plasma lactate was increased; no psychomotor development and severe spasticity with hyperreflexia
  • brain MRI showed global lack of myelination in the cerebral hemispheres and decreased supratentorial volume.
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)