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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.

ORPHA:95232

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: -

  A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) Polski ()

Detailed information

Disease review articles

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

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.