MYASTHENIC SYNDROME, CONGENITAL, 18

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr:
OMIM Id: 616330
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:0000508) Ptosis 459 / 7739
2
 (HPO:0002355) Difficulty walking 61 / 7739
3
 (HPO:0003388) Easy fatigability 34 / 7739
4
 (HPO:0001263) Global developmental delay 853 / 7739
5
 (HPO:0001284) Areflexia 198 / 7739
6
 (HPO:0002465) Poor speech 31 / 7739
7
 (HPO:0001260) Dysarthria 329 / 7739
8
 (HPO:0001251) Ataxia 413 / 7739
9
 (HPO:0001371) Flexion contracture 220 / 7739
10
 (HPO:0001558) Decreased fetal movement 74 / 7739
11
 (HPO:0002093) Respiratory insufficiency 410 / 7739
12
 (HPO:0001324) Muscle weakness 859 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: