EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr:
OMIM Id: 616211
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:0000252) Microcephaly 832 / 7739
2
 (HPO:0000648) Optic atrophy rare [HPO:skoehler] 238 / 7739
3
 (HPO:0000512) Abnormal electroretinogram rare [HPO:skoehler] 61 / 7739
4
 (HPO:0000546) Retinal degeneration rare [HPO:skoehler] 61 / 7739
5
 (HPO:0200134) Epileptic encephalopathy 42 / 7739
6
 (HPO:0001257) Spasticity 251 / 7739
7
 (HPO:0001250) Seizures 1245 / 7739
8
 (HPO:0001263) Global developmental delay 853 / 7739
9
 (HPO:0002375) Hypokinesia 25 / 7739
10
 (HPO:0001347) Hyperreflexia 363 / 7739
11
 (HPO:0002063) Rigidity 92 / 7739
12
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
13
 (HPO:0002079) Hypoplasia of the corpus callosum rare [HPO:skoehler] 161 / 7739
14
 (HPO:0012448) Delayed myelination rare [HPO:skoehler] 51 / 7739
15
 (HPO:0002059) Cerebral atrophy rare [HPO:skoehler] 171 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: