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.
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craniotelencephalic dysplasia
MONDO:0009042
X-linked lissencephaly with abnormal genitalia
MONDO:0010268
cobblestone lissencephaly without muscular or ocular involvement
MONDO:0014077
lissencephaly 7 with cerebellar hypoplasia
MONDO:0014596
lissencephaly 8
MONDO:0014992
classic lissencephaly
MONDO:0015146