Disease Directory TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome
Neurological

TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome

Type

Malformation syndrome

Gene

TBCK

About TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome

TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome is a rare disease catalogued by Orphanet (ORPHA:488632). It is associated with the TBCK 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 TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome trials.

Search ClinicalTrials.gov for "TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome" or filter by Orphanet code ORPHA:488632 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:488632)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome. Updated daily.