Charcot-Marie-Tooth disease - deafness - intellectual deficit
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DEAFNESS WITH CHARCOT-MARIE-TOOTH DISEASE CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS Hereditary motor and sensory neuropathy with deafness, intellectual deficit and absent sensory large myelinated fibers |
| Number of Symptoms | 3 |
| OrphanetNr: | 90103 |
| OMIM Id: |
214370
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| ICD-10: |
G60.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive hereditary demyelinating motor and sensory neuropathy
-Rare genetic disease -Rare neurologic disease Charcot-Marie-Tooth disease -Rare genetic disease -Rare neurologic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0009830) | Peripheral neuropathy | 206 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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