Disease Directory X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
Rare Disease

X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability

Type

Malformation syndrome

Gene

USP9X

About X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability

X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability is a rare disease catalogued by Orphanet (ORPHA:480880). It is associated with the USP9X 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 female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability trials.

Search ClinicalTrials.gov for "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability" or filter by Orphanet code ORPHA:480880 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:480880)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability. Updated daily.