Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome

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ORPHA:90103OMIM:214370G60.0
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8Treatment centers

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Overview

Also known as:

Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibersCharcot-Marie-Tooth disease-hearing loss-intellectual disability syndromeHereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibersCMT-deafness-intellectual disability syndrome

Clinical phenotype terms— hover any for plain English:

Decreased number of large peripheral myelinated nerve fibersHP:0003387Decreased amplitude of sensory action potentialsHP:0007078Lower limb amyotrophyHP:0007210Severe sensorineural hearing impairmentHP:0008625Areflexia of lower limbsHP:0002522Abnormality of peripheral nerve conductionHP:0003134Distal sensory impairment of all modalitiesHP:0003409Impaired vibration sensation at anklesHP:0006938Intrinsic hand muscle atrophyHP:0008954
Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome.

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Clinical Trials

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No actively recruiting trials found for Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome at this time.

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Specialists

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No specialists are currently listed for Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center ↗

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center ↗

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program ↗

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site ↗

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site ↗

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site ↗

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine ↗

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program ↗

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome.

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Community

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Latest news about Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome

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Caregiver Resources

NORD Caregiver Resources

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Mental Health Support

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Family & Caregiver Grants

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Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.