EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr:
OMIM Id: 615859
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:0000322) Short philtrum 130 / 7739
2
 (HPO:0000341) Narrow forehead 96 / 7739
3
 (HPO:0000574) Thick eyebrow 96 / 7739
4
 (HPO:0000294) Low anterior hairline 52 / 7739
5
 (HPO:0000629) Periorbital fullness 13 / 7739
6
 (HPO:0000506) Telecanthus 156 / 7739
7
 (HPO:0012471) Thick vermilion border 115 / 7739
8
 (HPO:0000455) Broad nasal tip 67 / 7739
9
 (HPO:0100704) Cortical visual impairment 28 / 7739
10
 (HPO:0000377) Abnormality of the pinna 111 / 7739
11
 (HPO:0002521) Hypsarrhythmia 43 / 7739
12
 (HPO:0200134) Epileptic encephalopathy 42 / 7739
13
 (HPO:0001263) Global developmental delay 853 / 7739
14
 (HPO:0012110) Hypoplasia of the pons 16 / 7739
15
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: