MCID: NNS032
MIFTS: 44

Non-Syndromic X-Linked Intellectual Disability

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Non-Syndromic X-Linked Intellectual Disability

MalaCards integrated aliases for Non-Syndromic X-Linked Intellectual Disability:

Name: Non-Syndromic X-Linked Intellectual Disability 12 29 6 15
X-Linked Non-Syndromic Intellectual Disability 52 58
X-Linked Non-Specific Intellectual Disability 52
Non-Specific X-Linked Mental Retardation 12

Characteristics:

Orphanet epidemiological data:

58
x-linked non-syndromic intellectual disability
Inheritance: X-linked recessive; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Non-Syndromic X-Linked Intellectual Disability

Disease Ontology : 12 A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.

MalaCards based summary : Non-Syndromic X-Linked Intellectual Disability, also known as x-linked non-syndromic intellectual disability, is related to mental retardation, x-linked, syndromic 13 and syndromic x-linked intellectual disability. An important gene associated with Non-Syndromic X-Linked Intellectual Disability is RLIM (Ring Finger Protein, LIM Domain Interacting). Affiliated tissues include brain and testes, and related phenotypes are intellectual disability, moderate and global developmental delay

Related Diseases for Non-Syndromic X-Linked Intellectual Disability

Diseases related to Non-Syndromic X-Linked Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, syndromic 13 33.6 MECP2 GDI1
2 syndromic x-linked intellectual disability 31.8 ZNF81 ZNF711 UPF3B SYP RLIM RAB39B
3 alacrima, achalasia, and mental retardation syndrome 31.8 PAK3 MECP2 IQSEC2 IL1RAPL1 DLG3 ARX
4 non-syndromic intellectual disability 31.5 IQSEC2 FTSJ1 DLG3 ARX
5 syndromic intellectual disability 31.5 MECP2 IQSEC2 DLG3 CLCN4 ARX
6 coffin-lowry syndrome 31.5 ZNF81 RPS6KA3 MECP2
7 partington x-linked mental retardation syndrome 31.3 RPS6KA3 DLG3 ARX
8 mental retardation, x-linked 21 12.0
9 mental retardation, x-linked 92 11.7
10 epileptic encephalopathy, early infantile, 8 10.7 RAB39B MECP2 GDI1
11 opitz-kaveggia syndrome 10.7 UPF3B MECP2 IQSEC2 DLG3
12 autism 10.7 UPF3B RAB39B MECP2 IQSEC2 IL1RAPL1 DLG3
13 autism spectrum disorder 10.7 TSPAN7 RAB39B MECP2 IQSEC2 IL1RAPL1 DLG3
14 lennox-gastaut syndrome 10.6 MECP2 IQSEC2 ARX
15 epileptic encephalopathy, early infantile, 17 10.6 MECP2 ARX
16 west syndrome 10.6 MECP2 IQSEC2 DLG3 ARX
17 learning disability 10.6 RPS6KA3 MECP2 IQSEC2
18 specific learning disability 10.6 RPS6KA3 IQSEC2
19 syndromic x-linked intellectual disability siderius type 10.6 ZNF81 ZNF711
20 epileptic encephalopathy, early infantile, 6 10.6 MECP2 IQSEC2 ARX
21 aicardi syndrome 10.6 IQSEC2 ARX
22 christianson syndrome 10.5 MECP2 CNKSR2
23 lubs x-linked mental retardation syndrome 10.5 MECP2 GDI1
24 methylmalonic acidemia and homocysteinemia, cblx type 10.5
25 craniosynostosis with fibular aplasia 10.3
26 mental retardation, x-linked 23 10.3
27 chromosome xp11.22 duplication syndrome 10.3
28 infancy electroclinical syndrome 10.2 MECP2 ARX
29 mental retardation, x-linked 50 10.2
30 fragile x syndrome 10.2
31 mental retardation, x-linked, syndromic, houge type 10.2
32 microcephaly 10.2
33 iqsec2 10.2
34 hair whorl 10.2
35 down syndrome 10.2
36 mental retardation, x-linked 73 10.2
37 autism x-linked 2 10.2
38 mental retardation, x-linked, syndromic, claes-jensen type 10.2
39 mental retardation, x-linked 12 10.2
40 renpenning syndrome 1 10.2
41 rett syndrome 10.2
42 russell-silver syndrome, x-linked 10.2
43 aphasia 10.2
44 mutism 10.2
45 mecp2 disorders 10.2

Graphical network of the top 20 diseases related to Non-Syndromic X-Linked Intellectual Disability:



Diseases related to Non-Syndromic X-Linked Intellectual Disability

Symptoms & Phenotypes for Non-Syndromic X-Linked Intellectual Disability

Human phenotypes related to Non-Syndromic X-Linked Intellectual Disability:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
4 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
5 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
6 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
7 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
8 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
9 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
10 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
11 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
12 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
13 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
14 broad nasal tip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000455
15 thick lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000179
16 delayed eruption of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000684
17 periorbital fullness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000629
18 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
19 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
20 generalized tonic-clonic seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002069
21 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
22 2-3 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0004691
23 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
24 meckel diverticulum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002245
25 absence seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002121
26 long palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000637
27 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
28 drooling 58 31 occasional (7.5%) Occasional (29-5%) HP:0002307
29 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
30 intellectual disability, profound 58 31 occasional (7.5%) Occasional (29-5%) HP:0002187
31 small for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001518
32 shortening of all distal phalanges of the fingers 58 31 occasional (7.5%) Occasional (29-5%) HP:0006118
33 widened subarachnoid space 58 31 occasional (7.5%) Occasional (29-5%) HP:0012704
34 clinodactyly of the 2nd toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0005824
35 moderate sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008504
36 mild neurosensory hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008587
37 seizures 58 Frequent (79-30%)

GenomeRNAi Phenotypes related to Non-Syndromic X-Linked Intellectual Disability according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vaccinia virus (VACV) infection GR00249-S 9.6 ACSL4 ARHGEF6 ARX CLCN4 CNKSR2 DLG3

MGI Mouse Phenotypes related to Non-Syndromic X-Linked Intellectual Disability:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.77 ARHGEF6 ARX CNKSR2 DLG3 FTSJ1 GDI1
2 nervous system MP:0003631 9.36 ARHGEF6 ARX DLG3 GDI1 IL1RAPL1 MECP2

Drugs & Therapeutics for Non-Syndromic X-Linked Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Non-Syndromic X-Linked Intellectual Disability

Genetic Tests for Non-Syndromic X-Linked Intellectual Disability

Genetic tests related to Non-Syndromic X-Linked Intellectual Disability:

# Genetic test Affiliating Genes
1 Non-Syndromic X-Linked Intellectual Disability 29 NEXMIF

Anatomical Context for Non-Syndromic X-Linked Intellectual Disability

MalaCards organs/tissues related to Non-Syndromic X-Linked Intellectual Disability:

40
Brain, Testes

Publications for Non-Syndromic X-Linked Intellectual Disability

Articles related to Non-Syndromic X-Linked Intellectual Disability:

(show top 50) (show all 92)
# Title Authors PMID Year
1
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism. 61 6
21484992 2011
2
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. 6
27550844 2018
3
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. 6
27993705 2017
4
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 6
25644381 2016
5
Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 6
26793055 2015
6
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 6
24721225 2014
7
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. 6
24607389 2014
8
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability. 6
23674175 2014
9
Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India. 6
24115387 2014
10
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 6
23647072 2013
11
Fragile X and X-linked intellectual disability: four decades of discovery. 6
22482801 2012
12
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability. 6
22002931 2011
13
Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. 6
21956720 2011
14
Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms. 6
21204226 2011
15
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 6
20473311 2010
16
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. 6
20159109 2010
17
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 6
19377476 2009
18
Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family. 6
19012350 2008
19
Mutations in the calcium-related gene IL1RAPL1 are associated with autism. 6
18801879 2008
20
A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features. 6
18523455 2008
21
Familial deletion within NLGN4 associated with autism and Tourette syndrome. 6
18231125 2008
22
PAK3 related mental disability: further characterization of the phenotype. 6
17853471 2007
23
A novel mutation of the ARX gene in a male with nonsyndromic mental retardation. 6
17641262 2007
24
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions. 6
17480217 2007
25
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. 6
17100996 2006
26
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. 6
16470793 2006
27
Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation. 6
16078051 2005
28
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. 6
15850492 2005
29
A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9). 6
15342698 2004
30
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. 6
15162322 2004
31
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. 6
15185169 2004
32
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX. 6
15200506 2004
33
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism. 6
15151512 2004
34
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. 6
15121780 2004
35
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. 6
14963808 2004
36
Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation? 6
14735593 2004
37
X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3. 6
12884430 2003
38
Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX. 6
12640086 2003
39
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients. 6
12525535 2003
40
TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment. 6
12376945 2002
41
Clinical study and haplotype analysis in two brothers with Partington syndrome. 6
12376938 2002
42
Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome. 6
12376949 2002
43
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. 6
12376946 2002
44
Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23. 6
12210308 2002
45
Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3. 6
12116222 2002
46
A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58. 6
12070254 2002
47
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. 6
11971879 2002
48
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 6
11889465 2002
49
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. 6
11889467 2002
50
NR0B1-Related Adrenal Hypoplasia Congenita 6
20301604 2001

Variations for Non-Syndromic X-Linked Intellectual Disability

ClinVar genetic disease variations for Non-Syndromic X-Linked Intellectual Disability:

6 (show top 50) (show all 362) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NLGN4X NM_181332.3(NLGN4X):c.1252_1253GA[1] (p.Glu418fs)short repeat Pathogenic,risk factor 11051 rs1569118680 X:5821464-5821465 X:5903423-5903424
2 NLGN4X nsv513783deletion Pathogenic,risk factor 11052
3 RLIM NM_016120.4(RLIM):c.1067A>G (p.Tyr356Cys)SNV Pathogenic/Likely pathogenic 156224 rs786205133 X:73812083-73812083 X:74592248-74592248
4 SYP NM_003179.2(SYP):c.687C>T (p.Ala229=)SNV Conflicting interpretations of pathogenicity 198158 rs201427270 X:49048149-49048149 X:49191692-49191692
5 UPF3B NM_080632.2(UPF3B):c.1121G>A (p.Arg374His)SNV Conflicting interpretations of pathogenicity 212546 rs143538947 X:118971901-118971901 X:119837938-119837938
6 ZNF674 NM_001039891.3(ZNF674):c.707A>G (p.Lys236Arg)SNV Conflicting interpretations of pathogenicity 93484 rs201621696 X:46360317-46360317 X:46500882-46500882
7 IL1RAPL1 NM_014271.4(IL1RAPL1):c.2067C>G (p.Thr689=)SNV Conflicting interpretations of pathogenicity 211182 rs140330609 X:29973913-29973913 X:29955796-29955796
8 ZNF81 NM_007137.3(ZNF81):c.417A>G (p.Ile139Met)SNV Conflicting interpretations of pathogenicity 212697 rs189835360 X:47774462-47774462 X:47915063-47915063
9 ZNF81 NM_007137.3(ZNF81):c.1495A>G (p.Ile499Val)SNV Conflicting interpretations of pathogenicity 212695 rs182239885 X:47775540-47775540 X:47916141-47916141
10 ZNF674 NM_001039891.3(ZNF674):c.601C>T (p.Arg201Ter)SNV Conflicting interpretations of pathogenicity 130846 rs182004761 X:46360423-46360423 X:46500988-46500988
11 ZNF81 NM_007137.3(ZNF81):c.470A>G (p.Asn157Ser)SNV Conflicting interpretations of pathogenicity 130856 rs41312157 X:47774515-47774515 X:47915116-47915116
12 SYP NM_003179.2(SYP):c.868G>T (p.Gly290Trp)SNV Conflicting interpretations of pathogenicity 252615 rs376222680 X:49047968-49047968 X:49191511-49191511
13 SYP NM_003179.2(SYP):c.877G>A (p.Gly293Ser)SNV Conflicting interpretations of pathogenicity 368465 rs139475570 X:49047959-49047959 X:49191502-49191502
14 BRWD3 NM_153252.5(BRWD3):c.2184G>A (p.Ala728=)SNV Conflicting interpretations of pathogenicity 368727 rs369118921 X:79973119-79973119 X:80717620-80717620
15 ZNF41 NM_007130.3(ZNF41):c.2114G>A (p.Arg705His)SNV Conflicting interpretations of pathogenicity 368360 rs144904486 X:47307055-47307055 X:47447656-47447656
16 ACSL4 NM_001318510.2(ACSL4):c.1698-10G>ASNV Conflicting interpretations of pathogenicity 434072 rs193072191 X:108902750-108902750 X:109659521-109659521
17 ACSL4 NM_001318510.2(ACSL4):c.1391-7T>CSNV Conflicting interpretations of pathogenicity 495142 rs192665139 X:108906638-108906638 X:109663409-109663409
18 ZNF711 NM_021998.5(ZNF711):c.*118C>TSNV Uncertain significance 368749 rs907642064 X:84526952-84526952 X:85271946-85271946
19 BRWD3 NM_153252.5(BRWD3):c.4263C>T (p.Ala1421=)SNV Uncertain significance 368724 rs749607717 X:79938098-79938098 X:80682599-80682599
20 BRWD3 NM_153252.5(BRWD3):c.814-8T>ASNV Uncertain significance 368728 rs1057516005 X:79991595-79991595 X:80736096-80736096
21 BRWD3 NM_153252.4(BRWD3):c.-251_-250delTCshort repeat Uncertain significance 368731 rs1057516007 X:80065220-80065221 X:80809721-80809722
22 ZNF711 NM_021998.5(ZNF711):c.-180dupduplication Uncertain significance 368742 rs1057516012 X:84499162-84499163 X:85244156-85244157
23 ZNF711 NM_021998.5(ZNF711):c.-57T>ASNV Uncertain significance 368744 rs760150680 X:84500998-84500998 X:85245992-85245992
24 ZNF711 NM_021998.5(ZNF711):c.*763G>ASNV Uncertain significance 368756 rs779266566 X:84527597-84527597 X:85272591-85272591
25 ZNF41 NM_007130.3(ZNF41):c.*469C>TSNV Uncertain significance 368353 rs1057515902 X:47306360-47306360 X:47446961-47446961
26 ZNF41 NM_007130.3(ZNF41):c.160G>C (p.Asp54His)SNV Uncertain significance 368377 rs369407023 X:47315710-47315710 X:47456311-47456311
27 ZNF41 NM_007130.3(ZNF41):c.-422_-421insGCGCGCACGCinsertion Uncertain significance 368384 rs372112867 X:47341999-47342000 X:47482600-47482601
28 ZNF81 NM_007137.3(ZNF81):c.-116A>GSNV Uncertain significance 368389 rs1057515906 X:47705551-47705551 X:47846152-47846152
29 ZNF81 NM_007137.3(ZNF81):c.277+10T>CSNV Uncertain significance 368393 rs782441233 X:47755349-47755349 X:47895950-47895950
30 ZNF81 NM_007137.3(ZNF81):c.*3G>ASNV Uncertain significance 368398 rs1057515907 X:47776034-47776034 X:47916635-47916635
31 ZNF81 NM_007137.3(ZNF81):c.*1170G>TSNV Uncertain significance 368415 rs565670321 X:47777201-47777201 X:47917802-47917802
32 ZNF81 NM_007137.3(ZNF81):c.*3640A>GSNV Uncertain significance 368433 rs781963956 X:47779671-47779671 X:47920272-47920272
33 ZNF81 NM_007137.3(ZNF81):c.*4164A>GSNV Uncertain significance 368440 rs1057515918 X:47780195-47780195 X:47920796-47920796
34 ZNF81 NM_007137.3(ZNF81):c.*5311G>ASNV Uncertain significance 368448 rs1017729265 X:47781342-47781342 X:47921943-47921943
35 SYP NM_003179.2(SYP):c.*1169C>TSNV Uncertain significance 368455 rs919781140 X:49044571-49044571 X:49188118-49188118
36 SYP NM_003179.2(SYP):c.777C>T (p.Pro259=)SNV Uncertain significance 368466 rs1057515926 X:49048059-49048059 X:49191602-49191602
37 BRWD3 NM_153252.5(BRWD3):c.*6248A>GSNV Uncertain significance 368683 rs1057515993 X:79925860-79925860 X:80670361-80670361
38 BRWD3 NM_153252.5(BRWD3):c.*5514T>CSNV Uncertain significance 368689 rs1057515995 X:79926594-79926594 X:80671095-80671095
39 BRWD3 NM_153252.5(BRWD3):c.*2710G>ASNV Uncertain significance 368707 rs898420202 X:79929398-79929398 X:80673899-80673899
40 BRWD3 NM_153252.5(BRWD3):c.*2329A>TSNV Uncertain significance 368710 rs1057516001 X:79929779-79929779 X:80674280-80674280
41 ZNF711 NM_021998.5(ZNF711):c.2024C>T (p.Pro675Leu)SNV Uncertain significance 368747 rs1057516014 X:84526572-84526572 X:85271566-85271566
42 ZNF711 NM_021998.5(ZNF711):c.*47A>GSNV Uncertain significance 368748 rs755503652 X:84526881-84526881 X:85271875-85271875
43 BRWD3 NM_153252.5(BRWD3):c.*2626C>TSNV Uncertain significance 368708 rs1028184110 X:79929482-79929482 X:80673983-80673983
44 BRWD3 NM_153252.5(BRWD3):c.*1895C>GSNV Uncertain significance 368714 rs1057516002 X:79930213-79930213 X:80674714-80674714
45 BRWD3 NM_153252.5(BRWD3):c.*1703T>CSNV Uncertain significance 368715 rs1057516003 X:79930405-79930405 X:80674906-80674906
46 SYP NM_003179.2(SYP):c.-8C>TSNV Uncertain significance 368469 rs1057515927 X:49056653-49056653 X:49200194-49200194
47 BRWD3 NM_153252.5(BRWD3):c.*6439G>ASNV Uncertain significance 368682 rs375704347 X:79925669-79925669 X:80670170-80670170
48 ZNF81 NM_007137.3(ZNF81):c.*2050C>TSNV Uncertain significance 368419 rs1057515912 X:47778081-47778081 X:47918682-47918682
49 ZNF81 NM_007137.3(ZNF81):c.999T>C (p.Thr333=)SNV Uncertain significance 368394 rs369210201 X:47775044-47775044 X:47915645-47915645
50 BRWD3 NM_153252.5(BRWD3):c.3326-14deldeletion Uncertain significance 368726 rs765175433 X:79947491-79947491 X:80691992-80691992

Expression for Non-Syndromic X-Linked Intellectual Disability

Search GEO for disease gene expression data for Non-Syndromic X-Linked Intellectual Disability.

Pathways for Non-Syndromic X-Linked Intellectual Disability

GO Terms for Non-Syndromic X-Linked Intellectual Disability

Cellular components related to Non-Syndromic X-Linked Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glutamatergic synapse GO:0098978 8.92 PAK3 IL1RAPL1 DLG3 CNKSR2

Biological processes related to Non-Syndromic X-Linked Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendritic spine development GO:0060996 8.62 PAK3 ACSL4

Sources for Non-Syndromic X-Linked Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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