syndromic intellectual disability complex cortical dysplasia with other brain malformations polymicrogyria with optic nerve hypoplasia https://github.com/monarch-initiative/mondo/issues/9602 https://www.malacards.org/card/polymicrogyria_with_optic_nerve_hypoplasia Orphanet:250972 GARD:0020687 OMIM:613180 MONDO:0013172 polymicrogyria with optic nerve hypoplasia MESH:C567715 CDCBM8 A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. UMLS:C2750798 MEDGEN:442565 obsolete syndrome with a central nervous system malformation as major feature obsolete syndromic optic nerve hypoplasia obsolete cerebral malformation with epilepsy