MYOPATHY, TUBULAR AGGREGATE, 2

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 615883
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:0000616) Miosis 11 / 7739
2
 (HPO:0002522) Areflexia of lower limbs 16 / 7739
3
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
4
 (HPO:0001371) Flexion contracture 220 / 7739
5
 (HPO:0003306) Spinal rigidity 30 / 7739
6
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
7
 (HPO:0002901) Hypocalcemia 56 / 7739
8
 (HPO:0003324) Generalized muscle weakness 48 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: