Disease Directory Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Neurological

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

Type

Malformation syndrome

Gene

PIGT

About Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome is a rare disease catalogued by Orphanet (ORPHA:369837). It is associated with the PIGT 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-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome trials.

Search ClinicalTrials.gov for "Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome" or filter by Orphanet code ORPHA:369837 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:369837)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome. Updated daily.