MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 616094
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:0001270) Motor delay 322 / 7739
2
 (HPO:0100543) Cognitive impairment 230 / 7739
3
 (HPO:0001265) Hyporeflexia 208 / 7739
4
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
5
 (HPO:0003551) Difficulty climbing stairs 23 / 7739
6
 (HPO:0003560) Muscular dystrophy 88 / 7739
7
 (HPO:0001319) Neonatal hypotonia 101 / 7739
8
 (HPO:0003391) Gowers sign 37 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: