lissencephaly due to LIS1 mutation
Findings
No curated finding names lissencephaly due to LIS1 mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0011830), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
44 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Infantile spasmsHPOHP:0012469
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Thick cerebral cortexHPOHP:0006891
- Very frequent (80% to 99% of cases)
- Abnormal corpus callosum morphologyHPOHP:0001273
- Frequent (30% to 79% of cases)
- AgyriaHPOHP:0031882
- Frequent (30% to 79% of cases)
- Anterior predominant thick cortex pachygyriaHPOHP:0020191
- Frequent (30% to 79% of cases)
- Axial hypotonia
Show the remaining 32
- Epileptic encephalopathyHPOHP:0200134
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Frequent (30% to 79% of cases)
- Impaired smooth pursuitHPOHP:0007772
- Frequent (30% to 79% of cases)
- Language impairmentHPOHP:0002463
- Frequent (30% to 79% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Frequent (30% to 79% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
1 name
Resolves to: lissencephaly due to LIS1 mutation
- Also called
- PAFAH1B1-related lissencephaly