MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
General Information (adopted from Orphanet):
Synonyms, Signs: |
|
Number of Symptoms | 6 |
OrphanetNr: | |
OMIM Id: |
616052
|
ICD-10: |
|
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
|
Age of onset: |
|
Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
|
(HPO:0000158) | Macroglossia | 119 / 7739 | ||||
|
(HPO:0008981) | Calf muscle hypertrophy | 28 / 7739 | ||||
|
(HPO:0003691) | Scapular winging | 51 / 7739 | ||||
|
(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
|
(HPO:0006785) | Limb-girdle muscular dystrophy | 14 / 7739 | ||||
|
(HPO:0030046) | Hypoglycosylation of alpha-dystroglycan | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|