MCID: NNS032
MIFTS: 46

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 20 58
X-Linked Non-Specific Intellectual Disability 20
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 101 and mental retardation, x-linked, syndromic 13. An important gene associated with Non-Syndromic X-Linked Intellectual Disability is IQSEC2 (IQ Motif And Sec7 Domain ArfGEF 2). 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 in the Non-Syndromic X-Linked Intellectual Disability family:

Non-Syndromic X-Linked Intellectual Disability 2 Non-Syndromic X-Linked Intellectual Disability 19
Non-Syndromic X-Linked Intellectual Disability 20 Non-Syndromic X-Linked Intellectual Disability 58
Non-Syndromic X-Linked Intellectual Disability 14 Non-Syndromic X-Linked Intellectual Disability 45
Non-Syndromic X-Linked Intellectual Disability 50 Non-Syndromic X-Linked Intellectual Disability 84
Non-Syndromic X-Linked Intellectual Disability 89 Non-Syndromic X-Linked Intellectual Disability 81
Non-Syndromic X-Linked Intellectual Disability 9 Non-Syndromic X-Linked Intellectual Disability 1
Non-Syndromic X-Linked Intellectual Disability 77 Non-Syndromic X-Linked Intellectual Disability 90
Non-Syndromic X-Linked Intellectual Disability 91 Non-Syndromic X-Linked Intellectual Disability 93
Non-Syndromic X-Linked Intellectual Disability 63 Non-Syndromic X-Linked Intellectual Disability 30
Non-Syndromic X-Linked Intellectual Disability 82 Non-Syndromic X-Linked Intellectual Disability 88
Non-Syndromic X-Linked Intellectual Disability 46 Non-Syndromic X-Linked Intellectual Disability 41
Non-Syndromic X-Linked Intellectual Disability 72

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

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked 101 33.3 USP9X MID2 LOC101928335
2 mental retardation, x-linked, syndromic 13 32.7 MECP2 GDI1
3 syndromic x-linked intellectual disability 31.8 ZNF711 RAB39B PTCHD1 PAK3 MECP2 IQSEC2
4 alacrima, achalasia, and mental retardation syndrome 31.7 USP9X RPS6KA3 PAK3 MECP2 IQSEC2 IL1RAPL1
5 non-syndromic intellectual disability 31.4 IQSEC2 FTSJ1 DLG3 ARX
6 syndromic intellectual disability 31.4 IQSEC2 DLG3 CLCN4 ARX
7 partington x-linked mental retardation syndrome 31.1 RPS6KA3 PTCHD1 MECP2 ARX
8 non-syndromic x-linked intellectual disability 50 11.7
9 mental retardation, x-linked 23 11.7
10 mental retardation, x-linked 21 11.7
11 mental retardation, x-linked 53 11.7
12 mental retardation, x-linked 73 11.7
13 mental retardation, x-linked 42 11.7
14 mental retardation, x-linked, with or without seizures, arx-related 11.7
15 mental retardation, x-linked 96 11.7
16 mental retardation, x-linked 97 11.7
17 mental retardation, x-linked 92 11.7
18 mental retardation, x-linked 98 11.7
19 mental retardation, x-linked 99 11.7
20 mental retardation, x-linked 100 11.7
21 mental retardation, x-linked 103 11.7
22 mental retardation, x-linked 104 11.7
23 mental retardation, x-linked 105 11.7
24 mental retardation, x-linked 106 11.7
25 mental retardation, x-linked 107 11.7
26 non-syndromic x-linked intellectual disability 2 11.7
27 non-syndromic x-linked intellectual disability 19 11.7
28 non-syndromic x-linked intellectual disability 20 11.7
29 non-syndromic x-linked intellectual disability 58 11.7
30 non-syndromic x-linked intellectual disability 14 11.7
31 non-syndromic x-linked intellectual disability 45 11.7
32 non-syndromic x-linked intellectual disability 84 11.7
33 non-syndromic x-linked intellectual disability 89 11.7
34 non-syndromic x-linked intellectual disability 81 11.7
35 non-syndromic x-linked intellectual disability 9 11.7
36 non-syndromic x-linked intellectual disability 1 11.7
37 non-syndromic x-linked intellectual disability 77 11.7
38 non-syndromic x-linked intellectual disability 90 11.7
39 non-syndromic x-linked intellectual disability 91 11.7
40 non-syndromic x-linked intellectual disability 93 11.7
41 non-syndromic x-linked intellectual disability 63 11.7
42 non-syndromic x-linked intellectual disability 30 11.7
43 non-syndromic x-linked intellectual disability 82 11.7
44 non-syndromic x-linked intellectual disability 88 11.7
45 non-syndromic x-linked intellectual disability 46 11.7
46 non-syndromic x-linked intellectual disability 41 11.7
47 non-syndromic x-linked intellectual disability 72 11.7
48 chromosome xp11.22 duplication syndrome 11.3
49 intellectual developmental disorder, x-linked 108 11.3
50 disease of mental health 10.7 ZNF711 USP9X TSPAN7 SYP RPS6KA3 RAB39B

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 39)
# 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 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
7 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
8 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
9 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
10 thick lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000179
11 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
12 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
13 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
14 delayed eruption of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000684
15 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
16 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
17 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
18 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
19 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
20 intellectual disability, profound 58 31 occasional (7.5%) Occasional (29-5%) HP:0002187
21 small for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001518
22 broad nasal tip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000455
23 meckel diverticulum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002245
24 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
25 long palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000637
26 2-3 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0004691
27 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
28 periorbital fullness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000629
29 drooling 58 31 occasional (7.5%) Occasional (29-5%) HP:0002307
30 clinodactyly of the 2nd toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0005824
31 shortening of all distal phalanges of the fingers 58 31 occasional (7.5%) Occasional (29-5%) HP:0006118
32 moderate sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008504
33 mild neurosensory hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008587
34 widened subarachnoid space 58 31 occasional (7.5%) Occasional (29-5%) HP:0012704
35 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
36 generalized non-motor (absence) seizure 31 occasional (7.5%) HP:0002121
37 seizures 58 Frequent (79-30%)
38 generalized tonic-clonic seizures 58 Occasional (29-5%)
39 absence seizure 58 Occasional (29-5%)

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 shRNA abundance <= 50% GR00343-S 9.17 ACSL4 FTSJ1 GDI1 MECP2 MID2 RAB39B

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 ARHGEF6 ARX DLG3 FTSJ1 GDI1 IL1RAPL1
2 nervous system MP:0003631 9.44 ARHGEF6 ARX DLG3 GDI1 IL1RAPL1 IQSEC2

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 129)
# Title Authors PMID Year
1
A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility. 6 61
28973667 2017
2
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
3
Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. 6 61
21686261 2010
4
Whole genome sequencing of 45 Japanese patients with intellectual disability. 6
33624935 2021
5
Molecular characterization of Spanish patients with MECP2 duplication syndrome. 6
32043567 2020
6
Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene. 6
31415821 2020
7
Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability. 6
31623504 2020
8
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype. 6
30666632 2019
9
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. 6
29618507 2018
10
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
11
Monogenic disorders that mimic the phenotype of Rett syndrome. 6
29322350 2018
12
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey. 6
28815955 2017
13
Expanding the clinical picture of the MECP2 Duplication syndrome. 6
27247049 2017
14
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. 6
27993705 2017
15
Synaptic functions of the IQSEC family of ADP-ribosylation factor guanine nucleotide exchange factors. 6
27369185 2017
16
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 6
27864847 2017
17
The molecular and phenotypic spectrum of IQSEC2-related epilepsy. 6
27665735 2016
18
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 6
27652284 2016
19
A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability. 6
26733290 2016
20
Clinical application of whole-exome sequencing across clinical indications. 6
26633542 2016
21
Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression. 6
27009485 2016
22
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 6
25644381 2016
23
Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides. 6
26605526 2015
24
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. 6
25735484 2015
25
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
26
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. 6
26029707 2015
27
Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 6
26793055 2015
28
The genetic landscape of infantile spasms. 6
24781210 2014
29
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 6
24721225 2014
30
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. 6
24607389 2014
31
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability. 6
23674175 2014
32
Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India. 6
24115387 2014
33
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 6
23647072 2013
34
Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females. 6
23039062 2013
35
CDKL5 and ARX mutations in males with early-onset epilepsy. 6
23583054 2013
36
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. 6
23246292 2013
37
Novel mutation in ARX associated with early hand preference and a mild phenotype. 6
22922607 2012
38
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability. 6
22002931 2011
39
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. 6
21441247 2011
40
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. 6
21204215 2011
41
ARX spectrum disorders: making inroads into the molecular pathology. 6
20506206 2010
42
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 6
20473311 2010
43
Coffin-Lowry syndrome. 6
19888300 2010
44
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. 6
20159109 2010
45
Mutations in ARX Result in Several Defects Involving GABAergic Neurons. 6
20300201 2010
46
A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations. 6
19606478 2009
47
Clinical study of two brothers with a novel 33 bp duplication in the ARX gene. 6
19507262 2009
48
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. 6
19439424 2009
49
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 6
19377476 2009
50
Mutations in the calcium-related gene IL1RAPL1 are associated with autism. 6
18801879 2008

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 722)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZNF711 NM_021998.5(ZNF711):c.1573A>T (p.Arg525Ter) SNV Pathogenic 9763 rs199422240 GRCh37: X:84526121-84526121
GRCh38: X:85271115-85271115
2 SYP SYP, 1-BP INS, 274A Insertion Pathogenic 9863 GRCh37:
GRCh38:
3 SYP SYP, 2-BP DEL/INS Indel Pathogenic 9864 GRCh37:
GRCh38:
4 SYP SYP, 4-BP DEL, 829GACT Deletion Pathogenic 9865 GRCh37:
GRCh38:
5 SYP NM_003179.2(SYP):c.649G>C (p.Gly217Arg) SNV Pathogenic 9866 rs137852561 GRCh37: X:49048187-49048187
GRCh38: X:49191730-49191730
6 RAB39B NM_171998.4(RAB39B):c.215+1G>A SNV Pathogenic 10542 rs587776734 GRCh37: X:154493358-154493358
GRCh38: X:155264073-155264073
7 RAB39B NM_171998.4(RAB39B):c.21C>A (p.Tyr7Ter) SNV Pathogenic 10543 rs267606995 GRCh37: X:154493553-154493553
GRCh38: X:155264268-155264268
8 ARHGEF6 ARHGEF6, IVS1AS, T-C, -11 SNV Pathogenic 11432 GRCh37:
GRCh38:
9 DLG3 DLG3, IVS6DS, G-A, +5 SNV Pathogenic 11518 GRCh37:
GRCh38:
10 DLG3 DLG3, IVS8DS, G-A, +1 SNV Pathogenic 11519 GRCh37:
GRCh38:
11 GDI1 NM_001493.3(GDI1):c.275T>C (p.Leu92Pro) SNV Pathogenic 11626 rs121434607 GRCh37: X:153667373-153667373
GRCh38: X:154439027-154439027
12 GDI1 NM_001493.3(GDI1):c.208C>T (p.Arg70Ter) SNV Pathogenic 11627 rs121434608 GRCh37: X:153667165-153667165
GRCh38: X:154438819-154438819
13 GDI1 NM_001493.3(GDI1):c.1268G>C (p.Arg423Pro) SNV Pathogenic 11628 rs121434609 GRCh37: X:153670943-153670943
GRCh38: X:154442596-154442596
14 TSPAN7 NM_004615.3(TSPAN7):c.652G>T (p.Gly218Ter) SNV Pathogenic 11629 rs104894950 GRCh37: X:38540512-38540512
GRCh38: X:38681258-38681258
15 TSPAN7 TSPAN7, 2-BP DEL, 564GT Deletion Pathogenic 11631 GRCh37:
GRCh38:
16 RPS6KA3 NM_004586.3(RPS6KA3):c.343A>T (p.Thr115Ser) SNV Pathogenic 29932 rs387906703 GRCh37: X:20213246-20213246
GRCh38: X:20195128-20195128
17 DLG3-AS1 , DLG3 NM_021120.4(DLG3):c.1373C>G (p.Ser458Ter) SNV Pathogenic 29943 rs398122847 GRCh37: X:69674134-69674134
GRCh38: X:70454284-70454284
18 USP9X NM_001039591.3(USP9X):c.6278T>A (p.Leu2093His) SNV Pathogenic 127090 rs587777317 GRCh37: X:41077693-41077693
GRCh38: X:41218440-41218440
19 USP9X NM_001039591.3(USP9X):c.7526del (p.Gln2509fs) Deletion Pathogenic 127091 rs587777318 GRCh37: X:41089848-41089848
GRCh38: X:41230595-41230595
20 DLG3 NM_021120.4(DLG3):c.357+1G>C SNV Pathogenic 127193 rs587777359 GRCh37: X:69665409-69665409
GRCh38: X:70445559-70445559
21 DLG3 NM_021120.4(DLG3):c.985+1G>C SNV Pathogenic 127194 rs587777360 GRCh37: X:69670634-69670634
GRCh38: X:70450784-70450784
22 ZNF711 NM_021998.5(ZNF711):c.2054del (p.Phe685fs) Deletion Pathogenic 417761 rs1060505032 GRCh37: X:84526601-84526601
GRCh38: X:85271595-85271595
23 MID2 , LOC101928335 NM_012216.4(MID2):c.1040G>A (p.Arg347Gln) SNV Pathogenic 143857 rs587777605 GRCh37: X:107148823-107148823
GRCh38: X:107905593-107905593
24 ACSL4 NM_001318510.2(ACSL4):c.1585C>A (p.Arg529Ser) SNV Pathogenic 11564 rs122458138 GRCh37: X:108904872-108904872
GRCh38: X:109661643-109661643
25 ACSL4 NM_001318510.2(ACSL4):c.1003-2A>G SNV Pathogenic 11565 rs1569423317 GRCh37: X:108912404-108912404
GRCh38: X:109669175-109669175
26 ACSL4 NM_001318510.2(ACSL4):c.1001C>T (p.Pro334Leu) SNV Pathogenic 11566 rs122458139 GRCh37: X:108917632-108917632
GRCh38: X:109674403-109674403
27 PAK3 NM_002578.5(PAK3):c.1255C>T (p.Arg419Ter) SNV Pathogenic 11568 rs121434611 GRCh37: X:110439716-110439716
GRCh38: X:111196488-111196488
28 PAK3 NM_002578.5(PAK3):c.199C>T (p.Arg67Cys) SNV Pathogenic 11569 rs121434612 GRCh37: X:110385347-110385347
GRCh38: X:111142119-111142119
29 PAK3 NM_002578.5(PAK3):c.1094C>A (p.Ala365Glu) SNV Pathogenic 11570 rs121434613 GRCh37: X:110437630-110437630
GRCh38: X:111194402-111194402
30 PAK3 NM_002578.5(PAK3):c.1337G>C (p.Trp446Ser) SNV Pathogenic 11571 rs121434614 GRCh37: X:110439798-110439798
GRCh38: X:111196570-111196570
31 RPS6KA3 NM_004586.3(RPS6KA3):c.1147C>T (p.Arg383Trp) SNV Pathogenic 11659 rs122454129 GRCh37: X:20193362-20193362
GRCh38: X:20175244-20175244
32 RPS6KA3 NM_004586.3(RPS6KA3):c.455_457GAG[1] (p.Gly153del) Microsatellite Pathogenic 29931 rs398122813 GRCh37: X:20212333-20212335
GRCh38: X:20194215-20194217
33 ZNF711 NM_001330574.2(ZNF711):c.2263_2264TG[1] (p.Cys755_Glu756delinsTer) Microsatellite Pathogenic 9762 rs1603009115 GRCh37: X:84526673-84526674
GRCh38: X:85271667-85271668
34 USP9X NM_001039591.3(USP9X):c.260del (p.Pro87fs) Deletion Pathogenic 816935 rs1601957478 GRCh37: X:40990726-40990726
GRCh38: X:41131473-41131473
35 MID2 , LOC101928335 NM_012216.4(MID2):c.1447del (p.Ser483fs) Deletion Pathogenic 818208 rs1602511836 GRCh37: X:107167583-107167583
GRCh38: X:107924353-107924353
36 GDI1 NM_001493.3(GDI1):c.1184_1185AG[1] (p.Ser396fs) Microsatellite Pathogenic 29933 rs398122814 GRCh37: X:153670767-153670768
GRCh38: X:154442420-154442421
37 DLG3 NM_021120.4(DLG3):c.1092dup (p.Thr365fs) Duplication Pathogenic 29942 rs398122846 GRCh37: X:69671817-69671818
GRCh38: X:70451967-70451968
38 GDI1 NM_001493.3(GDI1):c.1060_1064del (p.Ser354fs) Deletion Pathogenic 975399 GRCh37: X:153670525-153670529
GRCh38: X:154442178-154442182
39 RPS6KA3 NM_004586.3(RPS6KA3):c.1304_1307del (p.Val435fs) Deletion Pathogenic 212067 rs797045920 GRCh37: X:20190910-20190913
GRCh38: X:20172792-20172795
40 RAB39B NM_171998.4(RAB39B):c.559G>T (p.Glu187Ter) SNV Pathogenic 436462 rs1557314191 GRCh37: X:154490171-154490171
GRCh38: X:155260886-155260886
41 FTSJ1 FTSJ1, EX9DEL Deletion Pathogenic 10894 GRCh37:
GRCh38:
42 FTSJ1 NM_012280.4(FTSJ1):c.196C>T (p.Gln66Ter) SNV Pathogenic 10895 rs1602048836 GRCh37: X:48337009-48337009
GRCh38: X:48478621-48478621
43 FTSJ1 FTSJ1, IVS2, G DEL, +1 Deletion Pathogenic 10896 GRCh37:
GRCh38:
44 FTSJ1 NM_012280.4(FTSJ1):c.192-2A>G SNV Pathogenic 10897 rs1602048728 GRCh37: X:48337003-48337003
GRCh38: X:48478615-48478615
45 NLGN4X NM_181332.3(NLGN4X):c.1252_1253GA[1] (p.Glu418fs) Microsatellite Pathogenic 11051 rs1569118680 GRCh37: X:5821464-5821465
GRCh38: X:5903423-5903424
46 NLGN4X nsv513783 Deletion Pathogenic 11052 GRCh37:
GRCh38:
47 ARX NM_139058.3(ARX):c.98T>C (p.Leu33Pro) SNV Pathogenic 11198 rs28936077 GRCh37: X:25033757-25033757
GRCh38: X:25015640-25015640
48 IL1RAPL1 NM_014271.4(IL1RAPL1):c.1377C>A (p.Tyr459Ter) SNV Pathogenic 11480 rs122461160 GRCh37: X:29973223-29973223
GRCh38: X:29955106-29955106
49 IL1RAPL1 NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter) SNV Pathogenic 11481 rs122461161 GRCh37: X:29973306-29973306
GRCh38: X:29955189-29955189
50 IL1RAPL1 IL1RAPL1, EX2-5DEL Deletion Pathogenic 11482 GRCh37:
GRCh38:

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

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

# Name GO ID Score Top Affiliating Genes
1 Rab protein signal transduction GO:0032482 8.96 RAB39B GDI1
2 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
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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....