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
- UMLS:C1848201 (OMIM:607432)
- UMLS:CN228917 (MONDO:equivalentTo)
- OMIM:607432 (Orphanet:95232/e)
- Orphanet:95232 (OMIM:607432)
- Orphanet:99796 (OMIM:607432)
Subsets
ordo_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.
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
Term relations
Subclass of: