MYASTHENIC SYNDROME, CONGENITAL, 14

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 616228
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:0000218) High palate rare [HPO:skoehler] 356 / 7739
2
 (HPO:0001270) Motor delay rare [HPO:skoehler] 322 / 7739
3
 (HPO:0003473) Fatigable weakness 39 / 7739
4
 (HPO:0002515) Waddling gait 56 / 7739
5
 (HPO:0003307) Hyperlordosis rare [HPO:skoehler] 122 / 7739
6
 (HPO:0001763) Pes planus rare [HPO:skoehler] 176 / 7739
7
 (HPO:0001371) Flexion contracture rare [HPO:skoehler] 220 / 7739
8
 (HPO:0003691) Scapular winging rare [HPO:skoehler] 51 / 7739
9
 (HPO:0002650) Scoliosis rare [HPO:skoehler] 705 / 7739
10
 (HPO:0008180) Mildly elevated creatine phosphokinase rare [HPO:skoehler] 28 / 7739
11
 (HPO:0003325) Limb-girdle muscle weakness 22 / 7739
12
 (HPO:0003391) Gowers sign 37 / 7739
13
 (HPO:0003200) Ragged-red muscle fibers rare [HPO:skoehler] 37 / 7739
14
 (HPO:0001252) Muscular hypotonia rare [HPO:skoehler] 990 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: