DEE23
MCID: DVL049
MIFTS: 40

Developmental and Epileptic Encephalopathy 23 (DEE23)

Categories: Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Developmental and Epileptic Encephalopathy 23

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 23:

Name: Developmental and Epileptic Encephalopathy 23 57 12
Epileptic Encephalopathy, Early Infantile, 23 57 73 29 6
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome 12 58
Epilepsy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome 12 58
Early Infantile Epileptic Encephalopathy 23 12 15
Eiee23 57 73
Dee23 57 12
Epileptic Encephalopathy, Early Infantile, 23; Eiee23 57

Characteristics:

Orphanet epidemiological data:

58
early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
three girls from 2 unrelated families have been reported (last curated june 2014)


HPO:

31
developmental and epileptic encephalopathy 23:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Developmental and Epileptic Encephalopathy 23

OMIM® : 57 Developmental and epileptic encephalopathy-23 (DEE23) is an autosomal recessive neurologic disorder characterized by the onset of intractable seizures in the first months of life (range, 2-6 months). Affected individuals have severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features (summary by Perrault et al., 2014). (615859) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 23, also known as epileptic encephalopathy, early infantile, 23, is related to early infantile epileptic encephalopathy and encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 23 is DOCK7 (Dedicator Of Cytokinesis 7). Affiliated tissues include eye, occipital lobe and pons, and related phenotypes are intellectual disability and low anterior hairline

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has material basis in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 23: A severe disease characterized by early-onset intractable epilepsy, dysmorphic features, intellectual disability, and cortical blindness. Brain imaging shows an abnormally marked pontobulbar sulcus with mild pontine hypoplasia, white matter abnormalities, and atrophy in the occipital lobe.

Related Diseases for Developmental and Epileptic Encephalopathy 23

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89

Diseases related to Developmental and Epileptic Encephalopathy 23 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 early infantile epileptic encephalopathy 10.1
2 encephalopathy 10.1
3 external ear disease 9.7 DHX8 DHX37
4 otitis externa 9.7 DHX8 DHX37
5 immunodeficiency 40 9.6 DHX8 DHX37

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 23:



Diseases related to Developmental and Epileptic Encephalopathy 23

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 23

Human phenotypes related to Developmental and Epileptic Encephalopathy 23:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 low anterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0000294
3 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
4 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
5 poor eye contact 58 31 frequent (33%) Frequent (79-30%) HP:0000817
6 broad nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000455
7 cerebral visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100704
8 hypoplasia of the pons 58 31 frequent (33%) Frequent (79-30%) HP:0012110
9 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
10 periorbital fullness 58 31 frequent (33%) Frequent (79-30%) HP:0000629
11 multifocal epileptiform discharges 58 31 frequent (33%) Frequent (79-30%) HP:0010841
12 occipital cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012105
13 generalized tonic seizure 31 frequent (33%) HP:0010818
14 thick vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0012471
15 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
16 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
17 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
18 everted lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000232
19 anophthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000528
20 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
21 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
22 bulbous nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000414
23 large earlobe 58 31 occasional (7.5%) Occasional (29-5%) HP:0009748
24 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
25 infantile spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0012469
26 long eyelashes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000527
27 focal impaired awareness seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002384
28 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
29 hypsarrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002521
30 narrow forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000341
31 atonic seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0010819
32 prominent ear helix 58 31 occasional (7.5%) Occasional (29-5%) HP:0009904
33 abnormal spaced incisors 58 31 occasional (7.5%) Occasional (29-5%) HP:0040159
34 hypotonia 31 occasional (7.5%) HP:0001252
35 generalized non-motor (absence) seizure 31 occasional (7.5%) HP:0002121
36 muscular hypotonia 58 Occasional (29-5%)
37 global developmental delay 31 HP:0001263
38 anteverted nares 58 Frequent (79-30%)
39 abnormality of the pinna 31 HP:0000377
40 absence seizure 58 Occasional (29-5%)
41 epileptic encephalopathy 31 HP:0200134
42 generalized tonic seizures 58 Frequent (79-30%)
43 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Nose:
anteverted nares
broad nasal tip
large nasal root

Head And Neck Face:
short philtrum
periorbital fullness
bitemporal narrowing

Neurologic Central Nervous System:
hypsarrhythmia
epileptic encephalopathy
delayed psychomotor development
thin corpus callosum
seizures, intractable
more
Head And Neck Ears:
abnormally shaped ears

Skin Nails Hair Hair:
low anterior hairline

Head And Neck Eyes:
telecanthus
thick eyebrows
cortical blindness
cortical visual impairment

Head And Neck Mouth:
full lips

Clinical features from OMIM®:

615859 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Developmental and Epileptic Encephalopathy 23 according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.44 DHX37
2 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.44 DHX8
3 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.44 DHX37
4 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.44 DHX37
5 Increased shRNA abundance (Z-score > 2) GR00366-A-167 9.44 DHX8
6 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.44 DHX37
7 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.44 DHX37
8 Increased shRNA abundance (Z-score > 2) GR00366-A-212 9.44 DHX8
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.44 DHX37
10 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.44 DHX8
11 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.44 DHX37 DHX8
12 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.44 DHX37

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 23

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 23

Genetic Tests for Developmental and Epileptic Encephalopathy 23

Genetic tests related to Developmental and Epileptic Encephalopathy 23:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 23 29 DOCK7

Anatomical Context for Developmental and Epileptic Encephalopathy 23

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 23:

40
Eye, Occipital Lobe, Pons

Publications for Developmental and Epileptic Encephalopathy 23

Articles related to Developmental and Epileptic Encephalopathy 23:

# Title Authors PMID Year
1
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. 6 57
24814191 2014
2
Novel DOCK7 mutations in a Chinese patient with early infantile epileptic encephalopathy 23. 61
30807358 2019

Variations for Developmental and Epileptic Encephalopathy 23

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 23:

6 (show top 50) (show all 355)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DOCK7 NM_001367561.1(DOCK7):c.2510del (p.Asp837fs) Deletion Pathogenic 139536 rs886037665 1:63021582-63021582 1:62555911-62555911
2 DOCK7 NM_001367561.1(DOCK7):c.3709C>T (p.Arg1237Ter) SNV Pathogenic 139537 rs587777484 1:62995020-62995020 1:62529349-62529349
3 DOCK7 NM_001367561.1(DOCK7):c.983C>G (p.Ser328Ter) SNV Pathogenic 139538 rs886037666 1:63100496-63100496 1:62634825-62634825
4 DOCK7 NM_001367561.1(DOCK7):c.6265G>T (p.Glu2089Ter) SNV Pathogenic 139539 rs587777485 1:62923324-62923324 1:62457653-62457653
5 DOCK7 NM_001367561.1(DOCK7):c.4783del (p.Met1595fs) Deletion Pathogenic 475155 rs1553156203 1:62962150-62962150 1:62496479-62496479
6 DOCK7 NM_001367561.1(DOCK7):c.1285C>T (p.Arg429Ter) SNV Pathogenic 376968 rs1057520100 1:63091070-63091070 1:62625399-62625399
7 DOCK7 NM_001367561.1(DOCK7):c.191_195delinsA (p.Leu64fs) Indel Pathogenic 567195 rs1557864817 1:63119780-63119784 1:62654109-62654113
8 DOCK7 NM_001367561.1(DOCK7):c.783del (p.Phe261fs) Deletion Pathogenic 581758 rs1557855477 1:63113397-63113397 1:62647726-62647726
9 DOCK7 NM_001367561.1(DOCK7):c.3976C>T (p.Arg1326Ter) SNV Pathogenic 837527 1:62979530-62979530 1:62513859-62513859
10 DOCK7 NM_001271999.1(DOCK7):c.3937-686_4570del Deletion Pathogenic 580298 1:62971367-62980255 1:62505696-62514584
11 DOCK7 NM_001367561.1(DOCK7):c.4237C>T (p.Arg1413Ter) SNV Pathogenic 855852 1:62979160-62979160 1:62513489-62513489
12 DOCK7 NM_001367561.1(DOCK7):c.2977T>C (p.Trp993Arg) SNV Likely pathogenic 982642 1:63008347-63008347 1:62542676-62542676
13 DOCK7 NM_001367561.1(DOCK7):c.2767-1G>A SNV Likely pathogenic 852196 1:63010711-63010711 1:62545040-62545040
14 DOCK7 NM_001367561.1(DOCK7):c.5463dup (p.Gln1822fs) Duplication Likely pathogenic 801492 rs1571266478 1:62954634-62954635 1:62488963-62488964
15 DOCK7 NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter) SNV Likely pathogenic 801493 rs758111714 1:63091022-63091022 1:62625351-62625351
16 DOCK7 NM_001367561.1(DOCK7):c.5101C>T (p.Arg1701Ter) SNV Likely pathogenic 804378 rs1419019482 1:62960062-62960062 1:62494391-62494391
17 DOCK7 NM_001367561.1(DOCK7):c.819-1G>A SNV Likely pathogenic 642295 rs763358033 1:63102275-63102275 1:62636604-62636604
18 DOCK7 NM_001367561.1(DOCK7):c.6056A>G (p.Lys2019Arg) SNV Uncertain significance 642560 rs1571219979 1:62940928-62940928 1:62475257-62475257
19 DOCK7 NM_001367561.1(DOCK7):c.3541C>T (p.Arg1181Cys) SNV Uncertain significance 642611 rs202054691 1:63001234-63001234 1:62535563-62535563
20 DOCK7 NM_001367561.1(DOCK7):c.2665C>T (p.Leu889Phe) SNV Uncertain significance 643096 rs1352552376 1:63018504-63018504 1:62552833-62552833
21 DOCK7 NM_001367561.1(DOCK7):c.6256G>A (p.Asp2086Asn) SNV Uncertain significance 643255 rs1374794957 1:62923333-62923333 1:62457662-62457662
22 DOCK7 NM_001367561.1(DOCK7):c.3346T>C (p.Ser1116Pro) SNV Uncertain significance 643511 rs1571451642 1:63003687-63003687 1:62538016-62538016
23 DOCK7 NM_001367561.1(DOCK7):c.3002G>A (p.Arg1001Gln) SNV Uncertain significance 643918 rs772181105 1:63008322-63008322 1:62542651-62542651
24 DOCK7 NM_001367561.1(DOCK7):c.3293A>G (p.Tyr1098Cys) SNV Uncertain significance 646846 rs766904797 1:63005223-63005223 1:62539552-62539552
25 DOCK7 NM_001367561.1(DOCK7):c.320+5G>A SNV Uncertain significance 647641 rs774913003 1:63119650-63119650 1:62653979-62653979
26 DOCK7 NM_001367561.1(DOCK7):c.3200T>C (p.Val1067Ala) SNV Uncertain significance 648967 rs768174598 1:63005316-63005316 1:62539645-62539645
27 DOCK7 NM_001367561.1(DOCK7):c.3803G>A (p.Arg1268Lys) SNV Uncertain significance 649572 rs757564314 1:62993955-62993955 1:62528284-62528284
28 DOCK7 NM_001367561.1(DOCK7):c.160G>A (p.Ala54Thr) SNV Uncertain significance 649776 rs150216310 1:63119815-63119815 1:62654144-62654144
29 DOCK7 NM_001367561.1(DOCK7):c.2395T>A (p.Leu799Ile) SNV Uncertain significance 649871 rs1346114751 1:63024696-63024696 1:62559025-62559025
30 DOCK7 NM_001367561.1(DOCK7):c.2797A>G (p.Thr933Ala) SNV Uncertain significance 650132 rs780996734 1:63010680-63010680 1:62545009-62545009
31 DOCK7 NM_001367561.1(DOCK7):c.4019A>G (p.Asp1340Gly) SNV Uncertain significance 650468 rs143210310 1:62979487-62979487 1:62513816-62513816
32 DOCK7 NM_001367561.1(DOCK7):c.740C>T (p.Pro247Leu) SNV Uncertain significance 652404 rs752393412 1:63113440-63113440 1:62647769-62647769
33 DOCK7 NM_001367561.1(DOCK7):c.2959G>A (p.Glu987Lys) SNV Uncertain significance 653019 rs540487612 1:63008365-63008365 1:62542694-62542694
34 DOCK7 NM_001367561.1(DOCK7):c.4235G>A (p.Arg1412Gln) SNV Uncertain significance 653381 rs777255776 1:62979162-62979162 1:62513491-62513491
35 DOCK7 NM_001367561.1(DOCK7):c.5816G>A (p.Arg1939His) SNV Uncertain significance 654697 rs749259157 1:62941523-62941523 1:62475852-62475852
36 DOCK7 NM_001367561.1(DOCK7):c.455G>T (p.Gly152Val) SNV Uncertain significance 656186 rs1410619828 1:63114150-63114150 1:62648479-62648479
37 DOCK7 NM_001367561.1(DOCK7):c.3781+4C>G SNV Uncertain significance 656695 rs372305581 1:62994944-62994944 1:62529273-62529273
38 DOCK7 NM_001367561.1(DOCK7):c.39-5T>G SNV Uncertain significance 657191 rs761965930 1:63128806-63128806 1:62663135-62663135
39 DOCK7 NM_001367561.1(DOCK7):c.4465A>T (p.Ile1489Phe) SNV Uncertain significance 657409 rs1571334815 1:62973644-62973644 1:62507973-62507973
40 DOCK7 NM_001367561.1(DOCK7):c.5807A>C (p.Tyr1936Ser) SNV Uncertain significance 657623 rs1425343978 1:62941532-62941532 1:62475861-62475861
41 DOCK7 NM_001367561.1(DOCK7):c.4801C>G (p.Leu1601Val) SNV Uncertain significance 659398 rs1379132589 1:62962132-62962132 1:62496461-62496461
42 DOCK7 NM_001367561.1(DOCK7):c.2767G>T (p.Gly923Cys) SNV Uncertain significance 659804 rs868148362 1:63010710-63010710 1:62545039-62545039
43 DOCK7 NM_001367561.1(DOCK7):c.1328G>T (p.Gly443Val) SNV Uncertain significance 660477 rs1571818407 1:63091027-63091027 1:62625356-62625356
44 DOCK7 NM_001367561.1(DOCK7):c.2707G>C (p.Asp903His) SNV Uncertain significance 660742 rs759007079 1:63018462-63018462 1:62552791-62552791
45 DOCK7 NM_001367561.1(DOCK7):c.677A>G (p.Gln226Arg) SNV Uncertain significance 660825 rs1199986414 1:63113832-63113832 1:62648161-62648161
46 DOCK7 NM_001367561.1(DOCK7):c.38+6T>C SNV Uncertain significance 660827 rs1029588198 1:63153892-63153892 1:62688221-62688221
47 DOCK7 NM_001367561.1(DOCK7):c.6112T>G (p.Leu2038Val) SNV Uncertain significance 661025 rs749566422 1:62939753-62939753 1:62474082-62474082
48 DOCK7 NM_001367561.1(DOCK7):c.5406T>G (p.Ile1802Met) SNV Uncertain significance 661470 rs1571266733 1:62954692-62954692 1:62489021-62489021
49 DOCK7 NM_001367561.1(DOCK7):c.4702A>T (p.Ile1568Leu) SNV Uncertain significance 661698 rs374009939 1:62970363-62970363 1:62504692-62504692
50 DOCK7 NC_000001.11:g.(?_62505662)_(62513918_?)del Deletion Uncertain significance 663954 1:62971333-62979589 1:62505662-62513918

Expression for Developmental and Epileptic Encephalopathy 23

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 23.

Pathways for Developmental and Epileptic Encephalopathy 23

GO Terms for Developmental and Epileptic Encephalopathy 23

Cellular components related to Developmental and Epileptic Encephalopathy 23 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular GO:0005622 8.62 DHX8 DHX37

Biological processes related to Developmental and Epileptic Encephalopathy 23 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.32 STMN1 DHX37
2 microtubule cytoskeleton organization GO:0000226 9.26 TACC3 DOCK7
3 neuron projection development GO:0031175 9.16 STMN1 DOCK7
4 axonogenesis GO:0007409 8.96 STMN1 DOCK7
5 mitotic spindle organization GO:0007052 8.62 TACC3 STMN1

Molecular functions related to Developmental and Epileptic Encephalopathy 23 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 helicase activity GO:0004386 8.96 DHX8 DHX37
2 RNA helicase activity GO:0003724 8.62 DHX8 DHX37

Sources for Developmental and Epileptic Encephalopathy 23

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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