Trait
Type II lissencephaly
A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers.
Summary
- Also called
- Cobblestone lissencephaly, Lissencephaly type II, Type 2 lissencephaly
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Type II lissencephaly, and the rest of your genome, with one test.
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Get my Genome Test16 genes linked to Type II lissencephaly
Changes in these genes cause rare conditions in which Type II lissencephaly is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| CRPPACDP-L-ribitol pyrophosphorylase A | Always | In 1 condition |
| FKRPfukutin related protein | Always | In 3 conditions |
| FKTNfukutin | Always | In 3 conditions |
| LAMB1laminin subunit beta 1 | Always | In 2 conditions |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Always | In 2 conditions |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Always | In 1 condition |
| POMKprotein O-mannose kinase | Always | In 2 conditions |
| POMT1protein O-mannosyltransferase 1 | Always | In 2 conditions |
| POMT2protein O-mannosyltransferase 2 | Always | In 3 conditions |
| RXYLT1ribitol xylosyltransferase 1 | Always | In 1 condition |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Often (30–79%) | In 1 condition |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Often (30–79%) | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Often (30–79%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Often (30–79%) | In 2 conditions |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Often (30–79%) | In 2 conditions |
| TUBB3tubulin beta 3 class III | Often (30–79%) | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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