Lissencephaly due to LIS1 mutation

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Lissencephaly due to LIS1 mutation

Synonyms: PAFAH1B1-related lissencephaly

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Lissencephaly due to LIS1 mutation?

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