Disease Directory Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
Rare Disease

Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome

Type

Malformation syndrome

Gene

CTNNB1

About Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome

Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome is a rare disease catalogued by Orphanet (ORPHA:404473). It is associated with the CTNNB1 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 Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome trials.

Search ClinicalTrials.gov for "Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome" or filter by Orphanet code ORPHA:404473 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:404473)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome. Updated daily.