Terminology Service for NFDI4Health

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

Go to external page 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. [ ]

Term info

Label

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

database cross reference
Subsets

ordo_malformation_syndrome

exactMatch

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

id

MONDO:0018430

narrowMatch

https://icd.codes/icd10cm/Q04.3