cobblestone lissencephaly without muscular or ocular involvement
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.
MONDO:0018869
cobblestone lissencephaly
is_a
LIS5
related
cobblestone lissencephaly without muscular or eye involvement
exact
cobblestone lissencephaly without muscular or ocular involvement
exact
lissencephaly 5
related
lissencephaly type 2 without muscular or eye involvement
exact
lissencephaly type 2 without muscular or ocular involvement
exact
lissencephaly type 5
exact