cobblestone lissencephaly
Findings
No curated finding names cobblestone lissencephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.
Definition from the Mondo Disease Ontology (MONDO:0018869), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: cobblestone lissencephaly
- Also called
- lissencephaly type 2