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. [ Orphanet : 95232 ]

This is just here as a test because I lose it

Term information

database cross reference
Subsets

ordo_disease

abbreviation
LIS1 [ MONDO : Lexical https://omim.org/entry/607432 ]
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.
exactMatch
  • http://www.orpha.net/ORDO/Orphanet_95232
  • https://omim.org/entry/607432
  • http://linkedlifedata.com/resource/umls/id/CN228917
has exact synonym
  • PAFAH1B1-related lissencephaly
has related synonym
  • lissencephaly, classic
  • subcortical laminar heterotopia
  • lissencephaly 1
  • lissencephaly sequence, isolated
  • subcortical band heterotopia
  • LIS1
id
  • MONDO:0011830