You are using an outdated browser. Please upgrade your browser to improve your experience.

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

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is 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.
Mondo Term and Equivalent IDs
MONDO:0018430:  partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Orphanet:401959: 
UMLS:CN226145: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found