MYOPATHY, CENTRONUCLEAR, 5

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 615959
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:0000160) Narrow mouth 188 / 7739
2
 (HPO:0010628) Facial palsy 146 / 7739
3
 (HPO:0000278) Retrognathia 100 / 7739
4
 (HPO:0000218) High palate 356 / 7739
5
 (HPO:0000347) Micrognathia 426 / 7739
6
 (HPO:0000602) Ophthalmoplegia 56 / 7739
7
 (HPO:0001270) Motor delay 322 / 7739
8
 (HPO:0001284) Areflexia 198 / 7739
9
 (HPO:0003273) Hip contracture 30 / 7739
10
 (HPO:0001644) Dilated cardiomyopathy 141 / 7739
11
 (HPO:0002093) Respiratory insufficiency 410 / 7739
12
 (HPO:0006829) Severe muscular hypotonia 29 / 7739
13
 (HPO:0003327) Axial muscle weakness 10 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: