Disease Directory Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome
Renal

Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome

Type

Malformation syndrome

Gene

AMMECR1

About Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome

Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome is a rare disease catalogued by Orphanet (ORPHA:688581). It is associated with the AMMECR1 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 Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome trials.

Search ClinicalTrials.gov for "Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome" or filter by Orphanet code ORPHA:688581 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:688581)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome. Updated daily.