Resources

Clinical references

• GeneReviews: Koolen-de Vries Syndrome – comprehensive clinical overview.
• Orphanet: Koolen-de Vries syndrome – summary of features and coding.
• OMIM: Koolen-de Vries Syndrome (610443) – gene and phenotype catalog.

Family-friendly guides

• Unique: Koolen-de Vries Syndrome guide (PDF)
• Simons Searchlight: KANSL1
• Simons Searchlight: 17q21.31 deletion

Research and registries

• Join Simons Searchlight – registry and research participation.
• ClinicalTrials.gov – current studies.

Genetics and variant databases

• ClinVar – public archive of variant interpretations.
• DECIPHER – phenotype and variant database (clinician access).

Community and support

• Use our Contact page to get connected with local groups.
• Follow updates and community posts on our Facebook page.

How to evaluate a resource

• Check the publication date and whether sources are cited.
• Prefer clinical organizations, hospitals, or rare disease networks.
• Be cautious with claims of cures or unproven treatments.