Disease Directory Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
Neurological

Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome

Type

Malformation syndrome

Gene

OTUD6B

About Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome

Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome is a rare disease catalogued by Orphanet (ORPHA:505237). It is associated with the OTUD6B 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 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome trials.

Search ClinicalTrials.gov for "Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome" or filter by Orphanet code ORPHA:505237 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

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Orphanet

European reference resource for rare diseases (ORPHA:505237)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome. Updated daily.