Trait
Rhombencephalosynapsis
Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis.
Summary
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test16 genes linked to Rhombencephalosynapsis
Changes in these genes cause rare conditions in which Rhombencephalosynapsis is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| EXOC2exocyst complex component 2 | Often (30–79%) | In 1 condition |
| CDONcell adhesion associated, oncogene regulated | Sometimes (5–29%) | In 1 condition |
| CRIPTOcripto, EGF-CFC family member | Sometimes (5–29%) | In 1 condition |
| DISP1dispatched RND transporter family member 1 | Sometimes (5–29%) | In 1 condition |
| DLL1delta like canonical Notch ligand 1 | Sometimes (5–29%) | In 1 condition |
| FGF8fibroblast growth factor 8 | Sometimes (5–29%) | In 1 condition |
| FOXH1forkhead box H1 | Sometimes (5–29%) | In 1 condition |
| GAS1growth arrest specific 1 | Sometimes (5–29%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| NODALnodal growth differentiation factor | Sometimes (5–29%) | In 1 condition |
| PTCH1patched 1 | Sometimes (5–29%) | In 1 condition |
| SHHsonic hedgehog signaling molecule | Sometimes (5–29%) | In 1 condition |
| SIX3SIX homeobox 3 | Sometimes (5–29%) | In 1 condition |
| STILSTIL centriolar assembly protein | Sometimes (5–29%) | In 1 condition |
| TGIF1TGFB induced factor homeobox 1 | Sometimes (5–29%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | Sometimes (5–29%) | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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