IQSEC3

gene
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Also known as KIAA1110MGC30156

Summary

IQSEC3 (IQ motif and Sec7 domain ArfGEF 3, HGNC:29193) is a protein-coding gene on chromosome 12p13.33, encoding IQ motif and SEC7 domain-containing protein 3 (Q9UPP2). Acts as a guanine nucleotide exchange factor (GEF) for ARF1.

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in several processes, including activation of GTPase activity; postsynapse organization; and regulation of small GTPase mediated signal transduction. Located in cytosol and nucleoplasm.

Source: NCBI Gene 440073 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): intellectual disability (Moderate, GenCC)
  • GWAS associations: 4
  • Clinical variants (ClinVar): 183 total — 1 pathogenic
  • MANE Select transcript: NM_001170738

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:29193
Approved symbolIQSEC3
NameIQ motif and Sec7 domain ArfGEF 3
Location12p13.33
Locus typegene with protein product
StatusApproved
AliasesKIAA1110, MGC30156
Ensembl geneENSG00000120645
Ensembl biotypeprotein_coding
OMIM612118
Entrez440073

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 2 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000382841, ENST00000537151, ENST00000538872, ENST00000540907, ENST00000544511

RefSeq mRNA: 2 — MANE Select: NM_001170738 NM_001170738, NM_015232

CCDS: CCDS31725, CCDS53728

Canonical transcript exons

ENST00000538872 — 14 exons

ExonStartEnd
ENSE00000893353141124141285
ENSE00000893355157528157694
ENSE00000893356161926162065
ENSE00000893357163494163619
ENSE00000893358165434165533
ENSE00000893359165729165890
ENSE00000893360169013169105
ENSE00001505730125633125912
ENSE00001671798157025157147
ENSE00002223867174599178455
ENSE000023101746676767436
ENSE000035329029914699214
ENSE00003573830138267139354
ENSE00003594037171112171161

Expression profiles

Bgee: expression breadth ubiquitous, 196 present calls, max score 98.62.

FANTOM5 (CAGE): breadth broad, TPM avg 0.5235 / max 46.6123, expressed in 194 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
1232810.218277
1232890.1731106
1232870.084345
1232880.047825

Top tissues by expression

285 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
right hemisphere of cerebellumUBERON:001489098.62gold quality
cerebellar hemisphereUBERON:000224598.36gold quality
cerebellar cortexUBERON:000212998.33gold quality
cerebellumUBERON:000203797.14gold quality
right frontal lobeUBERON:000281096.81gold quality
cingulate cortexUBERON:000302794.84gold quality
anterior cingulate cortexUBERON:000983594.79gold quality
amygdalaUBERON:000187694.35gold quality
Brodmann (1909) area 9UBERON:001354094.29gold quality
dorsolateral prefrontal cortexUBERON:000983493.27gold quality
prefrontal cortexUBERON:000045192.77gold quality
frontal cortexUBERON:000187092.25gold quality
neocortexUBERON:000195091.86gold quality
cerebellar vermisUBERON:000472091.31gold quality
hypothalamusUBERON:000189891.30gold quality
nucleus accumbensUBERON:000188291.26gold quality
cerebral cortexUBERON:000095690.92gold quality
Ammon’s hornUBERON:000195490.30gold quality
telencephalonUBERON:000189390.19gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047390.17gold quality
brainUBERON:000095590.06gold quality
putamenUBERON:000187489.92gold quality
temporal lobeUBERON:000187189.88gold quality
central nervous systemUBERON:000101789.78gold quality
forebrainUBERON:000189089.73gold quality
right uterine tubeUBERON:000130289.44gold quality
lateral nuclear group of thalamusUBERON:000273689.24gold quality
caudate nucleusUBERON:000187389.20gold quality
postcentral gyrusUBERON:000258188.91gold quality
superior frontal gyrusUBERON:000266188.33gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no1.25

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

220 targeting IQSEC3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4747-5P100.0067.902681
HSA-MIR-4776-3P100.0068.731340
HSA-MIR-5196-5P100.0067.982761
HSA-MIR-7110-3P100.0073.182486
HSA-MIR-8485100.0077.574731
HSA-MIR-4283100.0066.422097
HSA-MIR-6758-5P100.0066.211470
HSA-MIR-4533100.0069.482758
HSA-MIR-6856-5P100.0065.471298
HSA-MIR-6833-3P100.0070.633197
HSA-MIR-4692100.0067.322066
HSA-MIR-4768-5P100.0069.492861
HSA-MIR-451499.9967.101870
HSA-MIR-6825-5P99.9669.813431
HSA-MIR-185-3P99.9567.011743
HSA-MIR-216A-3P99.9571.192505
HSA-MIR-1236-3P99.9468.041695
HSA-MIR-4753-3P99.9071.033786
HSA-MIR-4731-5P99.8967.232537
HSA-MIR-449299.8768.253611
HSA-MIR-477999.8666.501583
HSA-MIR-5582-3P99.8672.484221
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-548AR-3P99.8571.263889
HSA-MIR-76599.8468.242442
HSA-MIR-132199.8465.301811
HSA-MIR-473999.8465.251832
HSA-MIR-4756-5P99.8464.981809
HSA-MIR-6785-5P99.8268.684428
HSA-MIR-6756-5P99.8267.972466

Literature-anchored findings (GeneRIF, showing 5)

  • These results suggest that KIAA1110 is expressed specifically in mature neurons and may play an important role in the secretion pathway as a GEF for ARF1. (PMID:17981261)
  • these data reveal that IQSEC3 acts together with gephyrin to regulate inhibitory synapse development. (PMID:27002143)
  • The genomic and clinical landscape of fetal akinesia. (PMID:31680123)
  • Loss of IQSEC3 Disrupts GABAergic Synapse Maintenance and Decreases Somatostatin Expression in the Hippocampus. (PMID:32049026)
  • IQSEC3 Deletion Impairs Fear Memory Through Upregulation of Ribosomal S6K1 Signaling in the Hippocampus. (PMID:35219498)

Cross-species orthologs

9 orthologs

OrganismSymbolGene ID
danio_rerioiqsec3bENSDARG00000093091
mus_musculusIqsec3ENSMUSG00000040797
rattus_norvegicusIqsec3ENSRNOG00000014083
drosophila_melanogastersizFBGN0026179
drosophila_melanogasterSec71FBGN0028538
drosophila_melanogastergarzFBGN0264560
caenorhabditis_elegansWBGENE00007703
caenorhabditis_elegansWBGENE00008685
caenorhabditis_elegansagef-1WBGENE00012386

Paralogs (15): CYTH3 (ENSG00000008256), PSD (ENSG00000059915), MON2 (ENSG00000061987), ARFGEF1 (ENSG00000066777), CYTH4 (ENSG00000100055), CYTH2 (ENSG00000105443), GBF1 (ENSG00000107862), CYTH1 (ENSG00000108669), ARFGEF2 (ENSG00000124198), IQSEC2 (ENSG00000124313), PSD4 (ENSG00000125637), IQSEC1 (ENSG00000144711), PSD2 (ENSG00000146005), PSD3 (ENSG00000156011), FBXO8 (ENSG00000164117)

Protein

Protein identifiers

IQ motif and SEC7 domain-containing protein 3Q9UPP2 (reviewed: Q9UPP2)

All UniProt accessions (1): Q9UPP2

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a guanine nucleotide exchange factor (GEF) for ARF1.

Subunit / interactions. Interacts with DLG1 and DLG4. Interacts with GPHN.

Subcellular location. Cytoplasm. Postsynaptic density.

Tissue specificity. Expressed specifically in the adult brain, predominantly in the cerebral cortex and the olfactory bulb, but not in the fetal brain. Expressed only in mature neurons, but not in undifferentiated neural stem precursor cells (NSPCs), nor in glioma cells.

Similarity. Belongs to the BRAG family.

Isoforms (2)

UniProt IDNamesCanonical?
Q9UPP2-11yes
Q9UPP2-22

RefSeq proteins (2): NP_001164209, NP_056047 (=MANE)

Domains & families (InterPro)

IDNameType
IPR000904Sec7_domDomain
IPR011993PH-like_dom_sfHomologous_superfamily
IPR023394Sec7_C_sfHomologous_superfamily
IPR033742IQSEC_PHDomain
IPR035999Sec7_dom_sfHomologous_superfamily

Pfam: PF01369, PF16453

UniProt features (35 total): compositionally biased region 12, sequence conflict 6, region of interest 6, domain 3, splice variant 3, coiled-coil region 2, chain 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9UPP2-F158.760.27

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 259

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

IDPathway
R-HSA-9768919NPAS4 regulates expression of target genes
R-HSA-212436Generic Transcription Pathway
R-HSA-73857RNA Polymerase II Transcription
R-HSA-74160Gene expression (Transcription)
R-HSA-9634815Transcriptional Regulation by NPAS4

MSigDB gene sets: 124 (showing top): GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_DN, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_REGULATION_OF_RECEPTOR_INTERNALIZATION, GOBP_REGULATION_OF_RECEPTOR_MEDIATED_ENDOCYTOSIS, GOBP_RECEPTOR_INTERNALIZATION, GOBP_REGULATION_OF_ENDOCYTOSIS, KEGG_ENDOCYTOSIS, GOBP_REGULATION_OF_TRANSPORT, GOBP_IMPORT_INTO_CELL, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_ENDOCYTOSIS, GOCC_POSTSYNAPSE

GO Biological Process (2): actin cytoskeleton organization (GO:0030036), regulation of ARF protein signal transduction (GO:0032012)

GO Molecular Function (1): guanyl-nucleotide exchange factor activity (GO:0005085)

GO Cellular Component (10): nucleoplasm (GO:0005654), cytosol (GO:0005829), postsynaptic density (GO:0014069), postsynaptic membrane (GO:0045211), inhibitory synapse (GO:0060077), glycinergic synapse (GO:0098690), GABA-ergic synapse (GO:0098982), postsynaptic specialization of symmetric synapse (GO:0099629), cytoplasm (GO:0005737), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-4 pathways:

CategoryPathways
Transcriptional Regulation by NPAS41
RNA Polymerase II Transcription1
Gene expression (Transcription)1
Generic Transcription Pathway1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure3
synapse3
postsynaptic specialization2
cytoskeleton organization1
actin filament-based process1
ARF protein signal transduction1
regulation of small GTPase mediated signal transduction1
GTP binding1
GDP binding1
GTPase regulator activity1
nuclear lumen1
cytoplasm1
asymmetric synapse1
synaptic membrane1
postsynapse1
symmetric synapse1
intracellular anatomical structure1
cell junction1

Protein interactions and networks

STRING

1376 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
IQSEC3GPHNQ9NQX3826
IQSEC3RBFOX3A6NFN3825
IQSEC3ARF6P26438735
IQSEC3INSYN1Q2T9L4660
IQSEC3ARF1P10947638
IQSEC3ARHGEF9O43307568
IQSEC3EVLQ9UI08515
IQSEC3TMEM236Q5W0B7510
IQSEC3RBM43Q6ZSC3482
IQSEC3PLEK2Q9NYT0463
IQSEC3NRIP2Q9BQI9463
IQSEC3PLEKP08567451
IQSEC3TEX52A6NCN8448
IQSEC3NLGN2Q8NFZ4440
IQSEC3RBMS3Q6XE24431
IQSEC3INSYN2AQ6ZSG2431

IntAct

2 interactions, top by confidence:

ABTypeScore
Mpsi-mi:“MI:0914”(association)0.350

BioGRID (3): IQSEC3 (Affinity Capture-MS), IQSEC3 (Affinity Capture-RNA), IQSEC3 (Affinity Capture-MS)

ESM2 similar proteins: A0A140LI67, A0JN76, A1L2U9, A2A5N8, A2AJ77, A6QPM3, B1WAZ8, B8A5Y1, D3ZWK4, E9Q3T6, E9Q8T2, O15060, O88866, O94966, P0C2N6, P57058, Q05516, Q0IH98, Q0IJ29, Q3B725, Q3TES0, Q3UZD5, Q4R739, Q60760, Q68UT7, Q6NZK8, Q6P2A1, Q6P4K6, Q6Q783, Q6S5L9, Q6YND2, Q76M68, Q7ZWZ4, Q80X44, Q8BXX2, Q8N680, Q8NE63, Q96CK0, Q99592, Q9GZV8

Diamond homologs: A0A0G2JUG7, A2A5R2, A5PKW4, D4A631, E1JIT7, F1MUS9, F4IXW2, F4JN05, F4JSZ5, F4K2K3, G3X9K3, G5EET6, O08967, O13690, O13817, O43739, O46382, P11075, P34512, P39993, P47102, P63034, P63035, P97694, P97696, Q10491, Q15438, Q2KI41, Q2PFD7, Q3TES0, Q42510, Q54KA7, Q5DTT2, Q5DU25, Q5E9G6, Q5JU85, Q6DFZ1, Q6DN90, Q6P1I6, Q76M68

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

183 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance144
Likely benign13
Benign8

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
1180524GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3Pathogenic

SpliceAI

3068 predictions. Top by Δscore:

VariantEffectΔscore
12:139350:AACAT:Adonor_gain1.0000
12:139351:ACAT:Adonor_gain1.0000
12:139352:CAT:Cdonor_gain1.0000
12:139352:CATG:Cdonor_loss1.0000
12:139353:AT:Adonor_gain1.0000
12:139354:TGTA:Tdonor_loss1.0000
12:139355:G:GGdonor_gain1.0000
12:141110:A:AGacceptor_gain1.0000
12:141111:C:Gacceptor_gain1.0000
12:141116:A:AGacceptor_gain1.0000
12:141117:C:Gacceptor_gain1.0000
12:141120:CCA:Cacceptor_loss1.0000
12:141121:CAGA:Cacceptor_loss1.0000
12:141122:A:AGacceptor_gain1.0000
12:141122:AGA:Aacceptor_loss1.0000
12:141123:G:GTacceptor_gain1.0000
12:141123:GA:Gacceptor_gain1.0000
12:141123:GAA:Gacceptor_gain1.0000
12:141123:GAAA:Gacceptor_gain1.0000
12:141123:GAAAC:Gacceptor_gain1.0000
12:141282:TGGA:Tdonor_gain1.0000
12:141283:GGA:Gdonor_gain1.0000
12:141283:GGAG:Gdonor_gain1.0000
12:141284:GA:Gdonor_gain1.0000
12:141284:GAG:Gdonor_gain1.0000
12:141284:GAGT:Gdonor_loss1.0000
12:141285:AGT:Adonor_loss1.0000
12:141286:G:Cdonor_loss1.0000
12:141286:G:GGdonor_gain1.0000
12:141288:GAG:Gdonor_loss1.0000

AlphaMissense

7649 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
12:138328:T:AI322N1.000
12:138339:T:CF326L1.000
12:138340:T:CF326S1.000
12:138341:C:AF326L1.000
12:138341:C:GF326L1.000
12:138343:G:CR327P1.000
12:138355:T:CL331P1.000
12:139330:G:CR656P1.000
12:139335:G:CG658R1.000
12:139336:G:AG658D1.000
12:139339:T:CL659P1.000
12:139345:T:CL661P1.000
12:141137:G:CG669R1.000
12:141138:G:AG669D1.000
12:141150:T:CL673P1.000
12:141192:C:AA687D1.000
12:141198:T:CF689S1.000
12:141201:T:CL690P1.000
12:141204:T:CL691P1.000
12:141215:G:CG695R1.000
12:141219:T:CL696P1.000
12:141236:G:AG702R1.000
12:141236:G:CG702R1.000
12:141237:G:AG702E1.000
12:141246:T:CL705P1.000
12:141282:T:CL717P1.000
12:157075:T:CL735P1.000
12:157084:T:CF738S1.000
12:157132:T:CL754P1.000
12:157569:T:CF773S1.000

dbSNP variants (sampled 300 via entrez): RS1000005973 (12:124673 A>G,T), RS1000068705 (12:82069 T>C), RS1000076018 (12:82276 G>A), RS1000111387 (12:152755 C>T), RS1000156739 (12:144668 G>A), RS1000167210 (12:113955 A>C,G), RS1000218657 (12:178135 A>C), RS1000232719 (12:114156 G>A), RS1000236756 (12:128404 A>G), RS1000318306 (12:147778 C>T), RS1000405445 (12:157194 G>A), RS1000418167 (12:109216 C>T), RS1000421051 (12:142249 C>T), RS1000503249 (12:177228 A>G,T), RS1000600707 (12:148543 T>C)

Disease associations

OMIM: gene MIM:612118 | disease phenotypes: MIM:617468, MIM:208150

GenCC curated gene-disease

DiseaseClassificationInheritance
intellectual disabilityModerateAutosomal recessive

Mondo (3): arthrogryposis multiplex congenita (MONDO:0015168), fetal akinesia deformation sequence 1 (MONDO:0100101), intellectual disability (MONDO:0001071)

Orphanet (2): Arthrogryposis multiplex congenita (Orphanet:1037), Fetal akinesia deformation sequence (Orphanet:994)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

StudyTraitp-value
GCST001520_1Response to angiotensin II receptor blocker therapy6.000000e-06
GCST002875_57Diisocyanate-induced asthma1.000000e-06
GCST007831_5Anti-thyroglobulin (TgAb) levels in Hashimoto’s thyroiditis4.000000e-06
GCST012020_445Serum metabolite levels8.000000e-23

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0006995response to diisocyanate

MeSH disease descriptors (1)

DescriptorNameTree numbers
D008607Intellectual DisabilityC10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidincreases methylation3
Benzo(a)pyreneaffects methylation, increases methylation2
GSK-J4decreases expression1
bisphenol Aaffects methylation, affects cotreatment, increases methylation1
ethyl-p-hydroxybenzoatedecreases expression1
dimethylselenideincreases expression, increases oxidation1
mono-(2-ethylhexyl)phthalateincreases abundance, increases methylation1
butyraldehydedecreases expression1
benzo(e)pyreneincreases methylation1
CGP 52608affects binding, increases reaction1
Resveratrolaffects cotreatment, decreases expression1
Fulvestrantincreases methylation, affects cotreatment1
Acetaminophendecreases expression1
Allergensdecreases expression1
Diethylhexyl Phthalateincreases abundance, increases methylation1
Leadaffects expression1
Methapyrileneincreases methylation1
Niclosamideincreases expression1
Plant Extractsaffects cotreatment, decreases expression1
Triclosanincreases expression1
Aflatoxin B1increases methylation1
Reactive Oxygen Speciesincreases expression, increases oxidation1

Clinical trials (associated diseases)

201 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT05657860PHASE4COMPLETEDGuanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479PHASE4RECRUITINGMetformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829PHASE4WITHDRAWNValbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198PHASE4NOT_YET_RECRUITINGDeutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736PHASE3COMPLETEDClinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302PHASE2COMPLETEDDown Syndrome Memantine Follow-up Study
NCT03862950PHASE2COMPLETEDA Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226PHASE2UNKNOWNStudy to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856PHASE2COMPLETEDEvaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320PHASE1COMPLETEDClinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361PHASE1ENROLLING_BY_INVITATIONSensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764PHASE1COMPLETEDUse of MRI and cTBS for Catatonia in Autism
NCT06586827PHASE1COMPLETEDImpact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940PHASE1NOT_YET_RECRUITINGEscalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476PHASE2/PHASE3COMPLETEDA Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796PHASE1/PHASE2COMPLETEDEffects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672EARLY_PHASE1RECRUITINGClinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948Not specifiedCOMPLETEDHealthy Lifestyles for People With Intellectual Disabilities
NCT01087320Not specifiedRECRUITINGGenome Medical Sequencing for Gene Discovery
NCT01652963Not specifiedUNKNOWNPicture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395Not specifiedCOMPLETEDMental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554Not specifiedCOMPLETEDResearch and Characterization of New Genes Involved in Intellectual Disability
NCT01915381Not specifiedCOMPLETEDImproving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623Not specifiedCOMPLETEDPivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773Not specifiedCOMPLETEDSupport Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849Not specifiedCOMPLETEDInter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041Not specifiedCOMPLETEDSedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438Not specifiedCOMPLETEDEstablishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761Not specifiedCOMPLETEDApparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420Not specifiedACTIVE_NOT_RECRUITINGMapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459Not specifiedACTIVE_NOT_RECRUITINGAutism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081Not specifiedCOMPLETEDDevelopment and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502Not specifiedCOMPLETEDEnhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277Not specifiedCOMPLETEDDiabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754Not specifiedCOMPLETEDWeight Management for Adolescents With IDD
NCT02591446Not specifiedCOMPLETEDTranscranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868Not specifiedCOMPLETEDEvaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394Not specifiedUNKNOWNFCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614Not specifiedCOMPLETEDPsychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405Not specifiedCOMPLETEDTMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders