Postsynaptic congenital myasthenic syndromes

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr: 98913
OMIM Id: 254300
601462
608930
608931
614198
ICD-10: G70.2
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: Congenital myasthenic syndromes
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0010628) Facial palsy 146 / 7739
2
 (HPO:0000508) Ptosis 459 / 7739
3
 (HPO:0000597) Ophthalmoparesis rare [HPO:skoehler] 71 / 7739
4
 (HPO:0003388) Easy fatigability 34 / 7739
5
 (HPO:0002515) Waddling gait 56 / 7739
6
 (HPO:0003473) Fatigable weakness 39 / 7739
7
 (HPO:0001558) Decreased fetal movement rare [HPO:skoehler] 74 / 7739
8
 (HPO:0008180) Mildly elevated creatine phosphokinase 28 / 7739
9
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
10
 (HPO:0002715) Abnormality of the immune system 46 / 7739
11
 (HPO:0003693) Distal amyotrophy 118 / 7739
12
 (HPO:0003394) Muscle cramps 106 / 7739
13
 (HPO:0007126) Proximal amyotrophy 29 / 7739
14
 (HPO:0001283) Bulbar palsy 31 / 7739
15
 (HPO:0003391) Gowers sign 37 / 7739
16
 (HPO:0003621) Juvenile onset 105 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: