EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 616341
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:0001298) Encephalopathy 72 / 7739
2
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
3
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
4
 (HPO:0001344) Absent speech 57 / 7739
5
 (HPO:0002521) Hypsarrhythmia 43 / 7739
6
 (HPO:0001263) Global developmental delay 853 / 7739
7
 (HPO:0011968) Feeding difficulties 240 / 7739
8
 (HPO:0002880) Respiratory difficulties 15 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: