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GENATLAS PHENOTYPE
last update : 10-07-2019
Symbol IIAE9
Location 9q34.13
Name encephalopathy, acute, infection-induced 9
Corresponding gene NUP214
Main clinical features
  • characterized by episodic acute neurodegeneration and developmental regression associated with infections and febrile illness; in the first months or years of life, often after normal or only mildly delayed early development
  • disease course is progressive, resulting in global developmental delay, abnormal movements, refractory seizures, microcephaly, and cerebellar atrophy; neurodevelopmental regression, seizures, myoclonic jerks, progressive microcephaly, and cerebellar atrophy
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    defense and immunity
    Type disease
    Remark(s)