Cervical hypertrichosis - peripheral neuropathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 10 |
| OrphanetNr: | 2218 |
| OMIM Id: |
239840
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| ICD-10: |
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| 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: | 3 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic syndrome with a Dandy-Walker malformation as major feature
-Rare genetic disease Hypertrichosis -Rare genetic disease -Rare skin disease Syndrome with a Dandy-Walker malformation as major feature -Rare developmental defect during embryogenesis -Rare neurologic disease |
Symptom Information:
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(HPO:0001305) | Dandy-Walker malformation | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0007178) | Motor polyneuropathy | 31 / 7739 | ||||
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(HPO:0000763) | Sensory neuropathy | 78 / 7739 | ||||
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(HPO:0002754) | Osteomyelitis | Frequent [Orphanet] | 37 / 7739 | |||
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(HPO:0011362) | Abnormal hair quantity | Very frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0004535) | Anterior cervical hypertrichosis | 3 / 7739 | ||||
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(HPO:0200042) | Skin ulcer | Frequent [Orphanet] | 138 / 7739 | |||
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(HPO:0003457) | EMG abnormality | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Peripheral sensory and motor neuropathy | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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