Disease Directory Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Neurological

Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

Type

Etiological subtype

Gene

PURA

About Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion is a rare disease catalogued by Orphanet (ORPHA:314655). It is associated with the PURA 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 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion trials.

Search ClinicalTrials.gov for "Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion" or filter by Orphanet code ORPHA:314655 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:314655)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion. Updated daily.