CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED, WITH APLASIACUTIS CONGENITA
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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8
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OrphanetNr:
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OMIM Id:
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302803
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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:
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Prevalence:
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No data available.
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Inheritance:
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X-linked recessive inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0001362)
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Calvarial skull defect |
3/3 [HPO:probinson]
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22 / 7739
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2
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(HPO:0007002)
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Motor axonal neuropathy |
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17 / 7739
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3
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(HPO:0003390)
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Sensory axonal neuropathy |
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26 / 7739
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4
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(HPO:0007385)
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Aplasia cutis congenita of scalp |
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10 / 7739
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5
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(OMIM)
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Type I hereditary motor and sensory neuropathy |
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1 / 7739
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6
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(OMIM)
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Skull defect under scalp aplasia |
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1 / 7739
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7
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(HPO:0001419)
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X-linked recessive inheritance |
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189 / 7739
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8
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(OMIM)
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Delayed nerve induction |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |