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polymicrogyria with optic nerve hypoplasia

^ http://purl.obolibrary.org/obo/MONDO_0013172

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. [ Orphanet:250972 ]

Term info

database cross reference
  • UMLS:C2750798 (Orphanet:250972)
  • MESH:C567715 (MONDO:equivalentTo)
  • OMIM:613180 (Orphanet:250972/e)
  • Orphanet:250972 (OMIM:613180)
Subsets

ordo_malformation_syndrome

abbreviation
CDCBM8 [ OMIM:613180 ]

definition

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.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_250972, http://linkedlifedata.com/resource/umls/id/C2750798, http://identifiers.org/mesh/C567715

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015655, http://purl.obolibrary.org/obo/MONDO_0015310, http://purl.obolibrary.org/obo/MONDO_0000508, http://purl.obolibrary.org/obo/MONDO_0015220

has exact synonym

polymicrogyria with optic nerve hypoplasia

has related synonym

cortical dysplasia, complex, with other brain malformations 8, cortical dysplasia, Complex, with Other brain malformations 8, CDCBM8

id

MONDO:0013172