Disease Directory Short stature-optic atrophy-Pelger-Huët anomaly syndrome
Rare Disease

Short stature-optic atrophy-Pelger-Huët anomaly syndrome

Type

Malformation syndrome

Gene

NBAS

About Short stature-optic atrophy-Pelger-Huët anomaly syndrome

Short stature-optic atrophy-Pelger-Huët anomaly syndrome is a rare disease catalogued by Orphanet (ORPHA:391677). It is associated with the NBAS 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 Short stature-optic atrophy-Pelger-Huët anomaly syndrome trials.

Search ClinicalTrials.gov for "Short stature-optic atrophy-Pelger-Huët anomaly syndrome" or filter by Orphanet code ORPHA:391677 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:391677)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Short stature-optic atrophy-Pelger-Huët anomaly syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Short stature-optic atrophy-Pelger-Huët anomaly syndrome. Updated daily.