MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 616326
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:0000276) Long face 109 / 7739
2
 (HPO:0000218) High palate 356 / 7739
3
 (HPO:0000508) Ptosis 459 / 7739
4
 (HPO:0003388) Easy fatigability 34 / 7739
5
 (HPO:0002804) Arthrogryposis multiplex congenita rare [HPO:skoehler] 93 / 7739
6
 (HPO:0001558) Decreased fetal movement 74 / 7739
7
 (HPO:0011968) Feeding difficulties 240 / 7739
8
 (HPO:0002093) Respiratory insufficiency 410 / 7739
9
 (HPO:0003391) Gowers sign 37 / 7739
10
 (HPO:0001252) Muscular hypotonia 990 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: