partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Findings
No curated finding names partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0018430), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KPNA7HGNC:21839
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of