PLEOCONIAL MYOPATHY WITH SALT CRAVING
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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10
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OrphanetNr:
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OMIM Id:
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262900
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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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Autosomal 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:0001270)
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Motor delay |
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322 / 7739
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2
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(HPO:0007126)
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Proximal amyotrophy |
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29 / 7739
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3
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(HPO:0001319)
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Neonatal hypotonia |
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101 / 7739
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4
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(HPO:0003701)
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Proximal muscle weakness |
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105 / 7739
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5
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(OMIM)
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Childhood myopathy |
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1 / 7739
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6
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(HPO:0030083)
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Salt craving |
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2 / 7739
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7
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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8
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(OMIM)
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Prolonged episodes of flaccid paralysis |
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1 / 7739
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9
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(OMIM)
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Increased numbers of large mitochondria aligned with lipid bodies in skeletal muscle fibers |
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1 / 7739
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10
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(OMIM)
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Proximal muscle weakness and wasting |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |