Disease Directory Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Neurological

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Type

Malformation syndrome

Gene

DIAPH1

About Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare disease catalogued by Orphanet (ORPHA:477814). It is associated with the DIAPH1 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 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome trials.

Search ClinicalTrials.gov for "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome" or filter by Orphanet code ORPHA:477814 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:477814)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome. Updated daily.