EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
|
|
Number of Symptoms
|
5
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
615833
|
|
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.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|
|
2
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
3
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
4
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
5
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |