Cobblestone lissencephaly

Orpha code: 51577OMIM code:

Definition

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.

Disease data
Classification

Clinical group

Synonyms
Lissencephaly type 2
Lizencefalia typu 2
ORPHA code
51577
OMIM code
-
ICD10 code
Q04.3
ICD11 code
LD20.1

No additional description.

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