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: Sort by abundance 

1
(HPO:0000158) Macroglossia 119 / 7739
2
(HPO:0008981) Calf muscle hypertrophy 28 / 7739
3
(HPO:0003691) Scapular winging 51 / 7739
4
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
5
(HPO:0006785) Limb-girdle muscular dystrophy 14 / 7739
6
(HPO:0030046) Hypoglycosylation of alpha-dystroglycan 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: