Disease Directory Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Neurological

Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

Type

Malformation syndrome

Gene

AFG2A

About Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome is a rare disease catalogued by Orphanet (ORPHA:457351). It is associated with the AFG2A 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 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome trials.

Search ClinicalTrials.gov for "Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome" or filter by Orphanet code ORPHA:457351 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:457351)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome. Updated daily.