Cobblestone lissencephaly without muscular or ocular involvement
Cobblestone lissencephaly without muscular or ocular involvement
Definition
Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.
Also known as cobblestone lissencephaly without muscular or eye involvement, cobblestone lissencephaly without muscular or ocular involvement, lissencephaly type 2 without muscular or eye involvement, lissencephaly type 2 without muscular or ocular involvement, lissencephaly type 5 — per MONDO