Disease Directory Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Rare Disease

Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Type

Malformation syndrome

Gene

TBCD

About Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome is a rare disease catalogued by Orphanet (ORPHA:496641). It is associated with the TBCD 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 progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome trials.

Search ClinicalTrials.gov for "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome" or filter by Orphanet code ORPHA:496641 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:496641)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome. Updated daily.