Disease Directory Neurodevelopmental delay-intellectual disability-skeletal defects syndrome
Rare Disease

Neurodevelopmental delay-intellectual disability-skeletal defects syndrome

Type

Malformation syndrome

Gene

HNRNPH2

About Neurodevelopmental delay-intellectual disability-skeletal defects syndrome

Neurodevelopmental delay-intellectual disability-skeletal defects syndrome is a rare disease catalogued by Orphanet (ORPHA:662198). It is associated with the HNRNPH2 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 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome trials.

Search ClinicalTrials.gov for "Neurodevelopmental delay-intellectual disability-skeletal defects syndrome" or filter by Orphanet code ORPHA:662198 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:662198)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Neurodevelopmental delay-intellectual disability-skeletal defects syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Neurodevelopmental delay-intellectual disability-skeletal defects syndrome. Updated daily.