MCID: EPL099
MIFTS: 44

Epileptic Encephalopathy, Early Infantile, 15

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Metabolic diseases, Mental diseases, Liver diseases, Muscle diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 15

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 15:

Name: Epileptic Encephalopathy, Early Infantile, 15 54 12 24 71 13 69
Early Infantile Epileptic Encephalopathy 12 50 24 51 56 29
Ohtahara Syndrome 12 51 56 14
Eiee15 24 71
Early Infantile Epileptic Encephalopathy with Suppression-Bursts 56
Early Infantile Epileptic Encephalopathy with Suppression Bursts 69
Early Infantile Epileptic Encephalopathy with Burst-Suppression 12
Early Infantile Epileptic Encephalopathy 15 29
X-Linked Infantile Spasm Syndrome 69
Eiee 56

Characteristics:

Orphanet epidemiological data:

56
early infantile epileptic encephalopathy
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Prevalence: 1-9/100000 (Japan),1-9/100000 (United Kingdom); Age of onset: Neonatal; Age of death: early childhood;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first months of life (3 to 7 months)
seizures are often refractory
one family has been reported (last curated january 2013)


HPO:

32
epileptic encephalopathy, early infantile, 15:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 615006
Disease Ontology 12 DOID:0050709
Orphanet 56 ORPHA1934
UMLS via Orphanet 70 C0393706
ICD10 via Orphanet 34 G40.3
MeSH 42 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 15

NIH Rare Diseases : 50 early infantile epileptic encephalopathy (eiee) is a neurological disorder characterized by seizures. the disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures.  infants have primarily tonic seizures (which cause stiffening of muscles of the body, generally those in the back, legs, and arms), but may also experience partial seizures, and rarely, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs). episodes may occur more than a hundred times per day. most infants with the disorder show underdevelopment of part or all of the cerebral hemispheres or structural anomalies. some cases are caused by metabolic disorders or by mutations in several different genes. the cause for many cases can’t be determined. there are several types of early infantile epileptic encephalopathy. the eegs reveal a characteristic pattern of high voltage spike wave discharge followed by little activity. this pattern is known as “burst suppression.” the seizures associated with this disease are difficult to treat and the syndrome is severely progressive. some children with this condition go on to develop other epileptic disorders such as west syndrome and lennox-gestaut syndrome.  last updated: 10/26/2016

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 15, also known as early infantile epileptic encephalopathy, is related to early infantile epileptic encephalopathy without suppression burst and stxbp1 encephalopathy with epilepsy, and has symptoms including poor eye contact, hypsarrhythmia and irritability. An important gene associated with Epileptic Encephalopathy, Early Infantile, 15 is ST3GAL3 (ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3), and among its related pathways/superpathways are G-Beta Gamma Signaling and Neuroscience. Affiliated tissues include eye and brain, and related phenotypes are behavior/neurological and nervous system

UniProtKB/Swiss-Prot : 71 Epileptic encephalopathy, early infantile, 15: A form of epilepsy that manifests in the neonatal or the early infantile period as severely impaired cognitive and motor development, due to recurrent clinical seizures or prominent interictal epileptiform discharges. Patients develop infantile spasms, mainly of the flexor type, between 3 and 7 months of age, which are accompanied by hypsarrhythmia on EEG. Other features include poor eye contact, hypotonia, primitive reflexes, and irritability. Seizures evolve clinically to Lennox-Gastaut syndrome.

NINDS : 51 Ohtahara syndrome is a neurological disorder characterized by seizures.  The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures.  Infants have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures.  Ohtahara syndrome is most commonly caused by metabolic disorders or structural damage in the brain, although the cause or causes for many cases can’t be determined.  Most infants with the disorder show significant underdevelopment of part or all of the cerebral hemispheres.  The EEGs of infants with Ohtahara syndrome reveal a characteristic pattern of high voltage spike wave discharge followed by little activity.  This pattern is known as “burst suppression.” Doctors have observed that boys are more often affected than girls.

Disease Ontology : 12 A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.

Description from OMIM: 615006

Related Diseases for Epileptic Encephalopathy, Early Infantile, 15

Diseases in the Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 23 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 38 Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 50 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 6 Epileptic Encephalopathy, Early Infantile, 39
Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 45 Epileptic Encephalopathy, Early Infantile, 40
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 37
Epileptic Encephalopathy, Early Infantile, 5 Epileptic Encephalopathy, Early Infantile, 31
Epileptic Encephalopathy, Early Infantile, 4 Epileptic Encephalopathy, Early Infantile, 14
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 41 Epileptic Encephalopathy, Early Infantile, 21
Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 43 Epileptic Encephalopathy, Early Infantile, 48
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 25 Epileptic Encephalopathy, Early Infantile, 42
Epileptic Encephalopathy, Early Infantile, 52 Epileptic Encephalopathy, Early Infantile, 46
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 33
Epileptic Encephalopathy, Early Infantile, 26 Epileptic Encephalopathy, Early Infantile, 7
Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 53
Epileptic Encephalopathy, Early Infantile, 30 Epileptic Encephalopathy, Early Infantile, 1
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 9
Epileptic Encephalopathy, Early Infantile, 8 Epileptic Encephalopathy, Early Infantile, 36

Diseases related to Epileptic Encephalopathy, Early Infantile, 15 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
id Related Disease Score Top Affiliating Genes
1 early infantile epileptic encephalopathy without suppression burst 12.1
2 stxbp1 encephalopathy with epilepsy 11.9
3 microcephaly, seizures, and developmental delay 11.7
4 epileptic encephalopathy, early infantile, 12 11.7
5 epileptic encephalopathy, early infantile, 25 11.6
6 epileptic encephalopathy, early infantile, 26 11.6
7 epileptic encephalopathy, early infantile, 8 11.6
8 epileptic encephalopathy, early infantile, 1 10.9
9 scn2a related disorders 10.8
10 congenital disorder of glycosylation, type im 10.8 SLC25A22 STXBP1
11 epileptic encephalopathy, early infantile, 4 10.8
12 epileptic encephalopathy, early infantile, 7 10.8
13 mental retardation, x-linked 29 and others 10.7 ARX KCNQ2
14 epilepsy, nocturnal frontal lobe, 5 10.7 KCNT1 SCN2A
15 childhood malignant schwannoma 10.7 SCN1A SCN2A
16 spastic paraplegia 2, x-linked 10.6 CDKL5 KCNQ2 SCN1A
17 microphthalmia, syndromic 2 10.6 ARX SCN2A
18 gaba aminotransferase deficiency 10.6 KCNQ2 SCN1A SCN2A
19 suppurative cholangitis 10.6 KCNQ2 SCN2A
20 glans penis cancer 10.5 KCNQ2 PNPO SCN1A
21 spondylosis 10.4 CDKL5 KCNT1 SCN1A
22 gingival disease 10.4 KCNQ2 SCN2A
23 autosomal dominant nonsyndromic deafness 10.4 AKT3 KCNQ2 SCN1A ST3GAL3
24 man1b1-cdg 10.4 KCNT1 SCN1A SCN2A SLC25A22
25 bone cancer 10.4 KCNQ2 SCN1A SCN2A
26 sensory peripheral neuropathy 10.4 ARX CACNA2D2 CDKL5 SCN1A STXBP1
27 mononeuritis multiplex 10.3 ARX KCNQ2 KCNT1 SCN1A
28 juvenile absence epilepsy 10.3 KCNQ2 KCNT1 PNPO SCN2A
29 gingival overgrowth 10.2 ARX CDKL5 SCN1A SIK1 SLC25A22
30 encephalopathy 10.2
31 spinocerebellar degeneration 10.2 CDKL5 KCNQ2 PNPO SCN1A SCN2A
32 adolescence-adult electroclinical syndrome 10.2 ARX CDKL5 KCNQ2 SCN1A SCN2A STXBP1
33 infantile epileptic encephalopathy 10.1
34 corpus callosum dysgenesis cleft spasm 10.1 AKT3 ARX
35 hemimegalencephaly 10.0
36 epilepsy 10.0
37 early myoclonic encephalopathy 10.0
38 childhood electroclinical syndrome 10.0 ARX KCNQ2 KCNT1 SCN1A SCN2A SLC25A22
39 west syndrome 9.9
40 biotinidase deficiency 9.7
41 hypertonia 9.7
42 megalencephaly 9.7
43 cerebellar hypoplasia 9.7
44 microcephaly 9.7
45 fainting 9.7 ARX CDKL5 GNAO1 PNPO SCN1A SCN2A
46 erythermalgia, primary 9.7 CDKL5 KCNQ2 KCNT1 PNPO SCN1A SCN2A
47 peyronie's disease 8.8 ARX CACNA2D2 CDKL5 GNAO1 KCNQ2 KCNT1

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 15:



Diseases related to Epileptic Encephalopathy, Early Infantile, 15

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 15

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
delayed psychomotor development
lack of speech development
seizures, infantile-onset
mental retardation, profound
more
Neurologic- Behavioral Psychiatric Manifestations:
irritability


Clinical features from OMIM:

615006

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 15:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 poor eye contact 32 HP:0000817
2 hypsarrhythmia 32 HP:0002521
3 irritability 32 HP:0000737
4 global developmental delay 32 HP:0001263
5 epileptic encephalopathy 32 HP:0200134
6 intellectual disability, profound 32 HP:0002187
7 muscular hypotonia 32 HP:0001252
8 central hypotonia 32 HP:0011398
9 epileptic spasms 32 HP:0011097
10 primitive reflex 32 HP:0002476

MGI Mouse Phenotypes related to Epileptic Encephalopathy, Early Infantile, 15:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 SCN1A SCN2A STXBP1 AKT3 ARX CACNA2D2
2 nervous system MP:0003631 9.4 AKT3 ARX CACNA2D2 CASK CDKL5 GNAO1

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 15

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 15

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 15

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 15:

id Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 29 24
2 Early Infantile Epileptic Encephalopathy 15 29
3 Epileptic Encephalopathy, Early Infantile, 15 24 ST3GAL3

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 15

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 15:

39
Eye, Brain

Publications for Epileptic Encephalopathy, Early Infantile, 15

Variations for Epileptic Encephalopathy, Early Infantile, 15

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 15:

71
id Symbol AA change Variation ID SNP ID
1 ST3GAL3 p.Ala320Pro VAR_069319

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 15:

6 (show all 32)
id Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ2 NM_172107.3(KCNQ2): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs118192226 GRCh37 Chromosome 20, 62046439: 62046439
2 ST3GAL3 ST3GAL3, ALA320PRO single nucleotide variant Pathogenic
3 GNAO1 NM_020988.2(GNAO1): c.607G> A (p.Gly203Arg) single nucleotide variant Pathogenic rs587777057 GRCh37 Chromosome 16, 56370656: 56370656
4 SCN1A NM_006920.4(SCN1A): c.4874G> A (p.Arg1625Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917995 GRCh37 Chromosome 2, 166848878: 166848878
5 SCN1A NM_001165963.1(SCN1A): c.2792G> A (p.Arg931His) single nucleotide variant Pathogenic rs794726718 GRCh37 Chromosome 2, 166894440: 166894440
6 SCN1A NM_001165963.1(SCN1A): c.3724_3725dupAT (p.Asp1243Leufs) duplication Pathogenic rs796053072 GRCh37 Chromosome 2, 166868773: 166868774
7 STXBP1 NM_003165.3(STXBP1): c.1099C> T (p.Arg367Ter) single nucleotide variant Pathogenic rs796053366 GRCh37 Chromosome 9, 130435529: 130435529
8 STXBP1 NM_003165.3(STXBP1): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs796053368 GRCh37 Chromosome 9, 130440789: 130440789
9 SCN8A NM_014191.3(SCN8A): c.5614C> T (p.Arg1872Trp) single nucleotide variant Pathogenic/Likely pathogenic rs796053228 GRCh38 Chromosome 12, 51807100: 51807100
10 KCNQ2 NM_172107.3(KCNQ2): c.1678C> T (p.Arg560Trp) single nucleotide variant Pathogenic rs773171451 GRCh38 Chromosome 20, 63413535: 63413535
11 KCNQ2 NM_172107.3(KCNQ2): c.1160delC (p.Pro387Argfs) deletion Pathogenic rs796052657 GRCh37 Chromosome 20, 62059777: 62059777
12 KCNQ2 NM_172107.3(KCNQ2): c.881C> T (p.Ala294Val) single nucleotide variant Pathogenic rs118192211 GRCh37 Chromosome 20, 62070997: 62070997
13 SCN1A NM_001165963.1(SCN1A): c.4282G> T (p.Val1428Phe) single nucleotide variant Pathogenic rs878854263 GRCh38 Chromosome 2, 166002474: 166002474
14 SCN1A NM_001165963.1(SCN1A): c.2861A> T (p.Glu954Val) single nucleotide variant Likely pathogenic rs878854262 GRCh38 Chromosome 2, 166037861: 166037861
15 STXBP1 NM_003165.3(STXBP1): c.798T> G (p.Tyr266Ter) single nucleotide variant Pathogenic rs751170778 GRCh38 Chromosome 9, 127668083: 127668083
16 KCNQ2 NM_172107.3(KCNQ2): c.1388_1389delTG (p.Val463Glufs) deletion Pathogenic rs878855236 GRCh38 Chromosome 20, 63415039: 63415040
17 GNAO1 NM_020988.2(GNAO1): c.625C> T (p.Arg209Cys) single nucleotide variant Pathogenic/Likely pathogenic rs886039494 GRCh37 Chromosome 16, 56370674: 56370674
18 STXBP1 NM_003165.3(STXBP1): c.1217G> A (p.Arg406His) single nucleotide variant Pathogenic rs886041246 GRCh37 Chromosome 9, 130438189: 130438189
19 KCNQ2 NM_172107.3(KCNQ2): c.868G> A (p.Gly290Ser) single nucleotide variant Pathogenic rs1057516098 GRCh38 Chromosome 20, 63439657: 63439657
20 SCN1A NM_001165963.1(SCN1A): c.4267C> G (p.Leu1423Val) single nucleotide variant Likely pathogenic rs1060502190 GRCh38 Chromosome 2, 166002489: 166002489
21 SCN1A NM_001165963.1(SCN1A): c.4236delA (p.Val1413Terfs) deletion Pathogenic rs1060502183 GRCh38 Chromosome 2, 166002520: 166002520
22 SCN1A NM_001165963.1(SCN1A): c.383+5C> G single nucleotide variant Likely pathogenic rs1060502185 GRCh37 Chromosome 2, 166915075: 166915075
23 SCN1A NM_001165963.1(SCN1A): c.4061G> T (p.Cys1354Phe) single nucleotide variant Pathogenic rs1057521537 GRCh38 Chromosome 2, 166002695: 166002695
24 SCN1A NM_001165963.1(SCN1A): c.312delC (p.Thr105Profs) deletion Pathogenic rs1060502187 GRCh38 Chromosome 2, 166058641: 166058641
25 SCN1A NM_001165963.1(SCN1A): c.5318C> A (p.Ser1773Tyr) single nucleotide variant Likely pathogenic rs121917951 GRCh38 Chromosome 2, 165991957: 165991957
26 SCN1A NM_001165963.1(SCN1A): c.3631dupT (p.Cys1211Leufs) duplication Pathogenic rs1060502182 GRCh38 Chromosome 2, 166013818: 166013818
27 SCN1A NM_001165963.1(SCN1A): c.3822T> G (p.Tyr1274Ter) single nucleotide variant Pathogenic rs1060502188 GRCh38 Chromosome 2, 166012166: 166012166
28 CACNA2D2 NM_006030.3(CACNA2D2): c.485_486delAT (p.Tyr162Terfs) deletion Pathogenic rs1060503108 GRCh38 Chromosome 3, 50387592: 50387593
29 STXBP1 NM_003165.3(STXBP1): c.385A> C (p.Thr129Pro) single nucleotide variant Likely pathogenic rs1060501724 GRCh38 Chromosome 9, 127661161: 127661161
30 STXBP1 NM_003165.3(STXBP1): c.1434G> A (p.Trp478Ter) single nucleotide variant Pathogenic rs1060501722 GRCh38 Chromosome 9, 127678505: 127678505
31 STXBP1 NM_003165.3(STXBP1): c.265delA (p.Ser89Valfs) deletion Pathogenic rs1060501723 GRCh38 Chromosome 9, 127660048: 127660048
32 KCNQ2 NM_172107.3(KCNQ2): c.2173_2179dupCGCCAGG (p.Gly727Alafs) duplication Likely pathogenic GRCh38 Chromosome 20, 63407084: 63407090

Copy number variations for Epileptic Encephalopathy, Early Infantile, 15 from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 246802 9 125800000 132500000 Copy number STXBP1 Ohtahara syndrome

Expression for Epileptic Encephalopathy, Early Infantile, 15

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 15.

Pathways for Epileptic Encephalopathy, Early Infantile, 15

Pathways related to Epileptic Encephalopathy, Early Infantile, 15 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 AKT3 CACNA2D2 GNAO1 SCN1A SCN2A
2 11.94 CASK GNAO1 KCNQ2 SCN1A SCN2A STXBP1
3
Show member pathways
11.55 KCNQ2 SCN1A SCN2A SPTAN1
4
Show member pathways
11.31 CACNA2D2 SCN1A SCN2A
5 10.71 CASK SPTAN1
6 10.4 KCNQ2 SCN1A SCN2A SPTAN1

GO Terms for Epileptic Encephalopathy, Early Infantile, 15

Cellular components related to Epileptic Encephalopathy, Early Infantile, 15 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 voltage-gated sodium channel complex GO:0001518 9.37 SCN1A SCN2A
2 axon initial segment GO:0043194 9.32 KCNQ2 SCN1A
3 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex GO:0000506 9.16 PIGP PIGQ
4 sodium channel complex GO:0034706 8.96 SCN1A SCN2A
5 node of Ranvier GO:0033268 8.8 KCNQ2 SCN1A SCN2A
6 membrane GO:0016020 10.16 AKT3 CACNA2D2 CASK CSNK1G1 GNAO1 KCNQ2

Biological processes related to Epileptic Encephalopathy, Early Infantile, 15 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.77 AKT3 CASK CDKL5 CSNK1G1 SIK1
2 phosphorylation GO:0016310 9.63 AKT3 CASK CDKL5 CSNK1G1 PNKP SIK1
3 ion transport GO:0006811 9.43 CACNA2D2 KCNQ2 KCNT1 SCN1A SCN2A SLC25A22
4 preassembly of GPI anchor in ER membrane GO:0016254 9.32 PIGP PIGQ
5 positive regulation of organ growth GO:0046622 9.26 ARX CACNA2D2
6 regulation of ion transmembrane transport GO:0034765 8.92 CACNA2D2 KCNQ2 SCN1A SCN2A

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 15 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.72 AKT3 CASK CDKL5 CSNK1G1 SIK1
2 protein serine/threonine kinase activity GO:0004674 9.65 AKT3 CASK CDKL5 CSNK1G1 SIK1
3 kinase activity GO:0016301 9.63 AKT3 CASK CDKL5 CSNK1G1 PNKP SIK1
4 voltage-gated ion channel activity GO:0005244 9.58 KCNQ2 SCN1A SCN2A
5 voltage-gated sodium channel activity GO:0005248 9.37 SCN1A SCN2A
6 transferase activity GO:0016740 9.28 AKT3 CASK CDKL5 CSNK1G1 PIGP PIGQ
7 phosphatidylinositol N-acetylglucosaminyltransferase activity GO:0017176 8.96 PIGP PIGQ

Sources for Epileptic Encephalopathy, Early Infantile, 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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