Disease Directory Kleefstra syndrome due to 9q34 microdeletion
Rare Disease

Kleefstra syndrome due to 9q34 microdeletion

Type

Etiological subtype

Gene

EHMT1

About Kleefstra syndrome due to 9q34 microdeletion

Kleefstra syndrome due to 9q34 microdeletion is a rare disease catalogued by Orphanet (ORPHA:96147). It is associated with the EHMT1 gene. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to Kleefstra syndrome due to 9q34 microdeletion trials.

Search ClinicalTrials.gov for "Kleefstra syndrome due to 9q34 microdeletion" or filter by Orphanet code ORPHA:96147 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

Visit website ↗

Orphanet

European reference resource for rare diseases (ORPHA:96147)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Kleefstra syndrome due to 9q34 microdeletion trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Kleefstra syndrome due to 9q34 microdeletion. Updated daily.