MYASTHENIC SYNDROME, CONGENITAL, 8
General Information (adopted from Orphanet):
Synonyms, Signs: |
|
Number of Symptoms | 8 |
OrphanetNr: | |
OMIM Id: |
615120
|
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:
|
(HPO:0010628) | Facial palsy | 146 / 7739 | ||||
|
(HPO:0000218) | High palate | rare [HPO:skoehler] | 356 / 7739 | |||
|
(HPO:0000508) | Ptosis | 459 / 7739 | ||||
|
(HPO:0003388) | Easy fatigability | 34 / 7739 | ||||
|
(HPO:0000774) | Narrow chest | 167 / 7739 | ||||
|
(HPO:0002093) | Respiratory insufficiency | rare [HPO:skoehler] | 410 / 7739 | |||
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
(HPO:0003828) | Variable expressivity | 130 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|