Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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: -
  • ICD-10: Q04.3
  • OMIM: 607432
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


Additional information

Further information 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.