has material basis in germline mutation in LAMB1 cobblestone lissencephaly without muscular or ocular involvement https://www.malacards.org/card/lissencephaly_5 Orphanet:352682 DOID:0112230 lissencephaly type 2 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. lissencephaly 5 MEDGEN:767571 cobblestone lissencephaly without muscular or ocular involvement GARD:0017526 cobblestone lissencephaly without muscular or eye involvement UMLS:C3554657 OMIM:615191 lissencephaly type 5 LIS5 lissencephaly type 2 without muscular or eye involvement MONDO:0014077 cobblestone lissencephaly