Disease Directory X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
Ophthalmological

X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency

Type

Disease

Gene

PRPS1

About X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency

X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency is a rare disease catalogued by Orphanet (ORPHA:423479). It is associated with the PRPS1 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 X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency trials.

Search ClinicalTrials.gov for "X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency" or filter by Orphanet code ORPHA:423479 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:423479)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency. Updated daily.