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partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018430

A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. [ Orphanet:401959 ]

Term info

database cross reference
  • UMLS:CN226145 (MONDO:equivalentTo)
  • Orphanet:401959 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

definition

A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_401959, http://linkedlifedata.com/resource/umls/id/CN226145

id

MONDO:0018430