EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15

General Information (adopted from Orphanet):

Synonyms, Signs: EIEE15
Number of Symptoms 18
OrphanetNr:
OMIM Id: 615006
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002476) Primitive reflex 9 / 7739
2
(HPO:0002187) Intellectual disability, profound 44 / 7739
3
(HPO:0002521) Hypsarrhythmia 43 / 7739
4
(HPO:0200134) Epileptic encephalopathy 42 / 7739
5
(HPO:0001263) Global developmental delay 853 / 7739
6
(HPO:0011097) Epileptic spasms 45 / 7739
7
(HPO:0000817) Poor eye contact 26 / 7739
8
(HPO:0011398) Central hypotonia 12 / 7739
9
(HPO:0000737) Irritability 93 / 7739
10
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
11
(HPO:0010547) Muscle flaccidity 466 / 7739
12
(HPO:0001252) Muscular hypotonia 990 / 7739
13
(HPO:0001324) Muscle weakness 859 / 7739
14
(OMIM) Inability to hold head 1 / 7739
15
(OMIM) Seizures, infantile onset 4 / 7739
16
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
(OMIM) Lack of speech development 20 / 7739
18
(OMIM) Inability to walk independently 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Edvardson et al. (2013) reported a consanguineous Palestinian family in which 4 members had a severe early infantile epileptic encephalopathy consistent with West syndrome. The patients developed infantile spasms, mainly of the flexor type, between 3 and 7 ...
Molecular genetics OMIM In 4 members of a consanguineous Palestinian family with early infantile epileptic encephalopathy-15, Edvardson et al. (2013) identified a homozygous mutation in the ST3GAL3 gene (A320P; 606494.0003). The mutation was identified by linkage analysis combined with whole-exome sequencing ...