lissencephaly spectrum disorders
Findings
No curated finding names lissencephaly spectrum disorders yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis.
Definition from the Mondo Disease Ontology (MONDO:0018838), read 2026-09-29. CC BY 4.0.
Features
1 feature
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, hp/releases/2026-09-01.
- LissencephalyMondoHP:0001339
Genes
3 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
- Narrower terms (15)
- Baraitser-Winter cerebrofrontofacial syndrome
- classic lissencephaly
- cobblestone lissencephaly
- cortical dysplasia, complex, with other brain malformations 9
- craniotelencephalic dysplasia
- lissencephaly 10
- lissencephaly 7 with cerebellar hypoplasia
- lissencephaly 8
- lissencephaly spectrum disorder with complex brainstem malformation
- lissencephaly type 3
- lissencephaly with cerebellar hypoplasia
- massa casaer ceulemans syndrome
- microlissencephaly
- Warburg micro syndrome
- X-linked lissencephaly with abnormal genitalia
Other names
2 names
Resolves to: lissencephaly spectrum disorders
- Also called
- Lissencephalylissencephaly (disease)