cerebral cortical dysplasia
Findings
No curated finding names cerebral cortical dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay.
Definition from the Mondo Disease Ontology (MONDO:0017094), read 2026-09-29. CC BY 4.0.
Genes
1 gene
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.
- PLXNC1HGNC:9106
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- Narrower terms (2)
Other names
2 names
Resolves to: cerebral cortical dysplasia
- Also called
- brain cortical dysplasiacortical dysplasia