Reducing body myopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 9 |
| OrphanetNr: | 97239 |
| OMIM Id: |
300717
300718 |
| ICD-10: |
G71.2 |
| UMLs: |
C0270970 |
| MeSH: |
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| MedDRA: |
|
| Snomed: |
42779002 |
Prevalence, inheritance and age of onset:
| Prevalence: | 4 families [Orphanet] |
| Inheritance: |
|
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital myopathy
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0001265) | Hyporeflexia | 208 / 7739 | ||||
|
|
(HPO:0001284) | Areflexia | 198 / 7739 | ||||
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(HPO:0001371) | Flexion contracture | 220 / 7739 | ||||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
|
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(HPO:0002747) | Respiratory insufficiency due to muscle weakness | 48 / 7739 | ||||
|
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(HPO:0003701) | Proximal muscle weakness | 105 / 7739 | ||||
|
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(HPO:0003557) | Increased variability in muscle fiber diameter | 24 / 7739 | ||||
|
|
(HPO:0003678) | Rapidly progressive | 33 / 7739 | ||||
|
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(HPO:0001423) | X-linked dominant inheritance | 69 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|