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Lissencephaly due to LIS1 mutation

Disease definition

Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.


Classification level: Disorder
  • Synonym(s):
    • PAFAH1B1-related lissencephaly
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal, Infancy
  • ICD-10: Q04.3
  • ICD-11: LD20.1
  • OMIM: 607432
  • UMLS: C4749301
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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