KLHL4

gene
On this page

Also known as KIAA1687DKELCHLKHL4

Summary

KLHL4 (kelch like family member 4, HGNC:6355) is a protein-coding gene on chromosome Xq21.31, encoding Kelch-like protein 4 (Q9C0H6).

This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms.

Source: NCBI Gene 56062 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 124 total — 1 pathogenic
  • MANE Select transcript: NM_019117

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:6355
Approved symbolKLHL4
Namekelch like family member 4
LocationXq21.31
Locus typegene with protein product
StatusApproved
AliasesKIAA1687, DKELCHL, KHL4
Ensembl geneENSG00000102271
Ensembl biotypeprotein_coding
OMIM300348
Entrez56062

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 nonsense_mediated_decay

ENST00000373114, ENST00000373119, ENST00000652270, ENST00000858462, ENST00000858463

RefSeq mRNA: 2 — MANE Select: NM_019117 NM_019117, NM_057162

CCDS: CCDS14456, CCDS14457

Canonical transcript exons

ENST00000373119 — 11 exons

ExonStartEnd
ENSE000006732638761443487614570
ENSE000006732648761793287618128
ENSE000006732658762221187622423
ENSE000006732668762561087625796
ENSE000006732678763221087632434
ENSE000006732688763374987633911
ENSE000006732698763556387635775
ENSE000006732708766476487664935
ENSE000008668538761387787614044
ENSE000011246328766647587670050
ENSE000014595558751780287518315

Expression profiles

Bgee: expression breadth ubiquitous, 170 present calls, max score 92.37.

FANTOM5 (CAGE): breadth broad, TPM avg 4.8800 / max 244.0114, expressed in 774 samples.

FANTOM5 promoters (16 alternative TSS)

Promoter IDTPM avgSamples expressed
1968581.0167402
1968630.9089328
1968640.5143193
1968590.4721196
1968570.3999207
1968600.255198
1968650.2508119
1968620.2439109
1968610.213983
1968540.195089

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
right adrenal gland cortexUBERON:003582792.37gold quality
left adrenal gland cortexUBERON:003582590.30gold quality
left adrenal glandUBERON:000123489.81gold quality
adrenal cortexUBERON:000123589.61gold quality
right adrenal glandUBERON:000123389.59gold quality
adrenal glandUBERON:000236987.56gold quality
corpus callosumUBERON:000233684.21gold quality
C1 segment of cervical spinal cordUBERON:000646981.79gold quality
spinal cordUBERON:000224079.49gold quality
adrenal tissueUBERON:001830379.34gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047376.70gold quality
prefrontal cortexUBERON:000045175.31gold quality
left uterine tubeUBERON:000130372.47gold quality
smooth muscle tissueUBERON:000113572.17gold quality
right ovaryUBERON:000211871.93gold quality
amygdalaUBERON:000187671.61gold quality
left ovaryUBERON:000211970.73gold quality
Brodmann (1909) area 9UBERON:001354070.48gold quality
dorsolateral prefrontal cortexUBERON:000983470.41gold quality
frontal cortexUBERON:000187070.31gold quality
ovaryUBERON:000099270.11gold quality
Ammon’s hornUBERON:000195469.89gold quality
neocortexUBERON:000195069.72gold quality
substantia nigraUBERON:000203869.20gold quality
cingulate cortexUBERON:000302768.70gold quality
cerebral cortexUBERON:000095668.58gold quality
anterior cingulate cortexUBERON:000983568.53gold quality
putamenUBERON:000187468.30gold quality
telencephalonUBERON:000189368.29gold quality
midbrainUBERON:000189168.02gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-GEOD-130148yes5.03
E-ANND-3no5.01

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

147 targeting KLHL4, 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-340-5P100.0072.504437
HSA-MIR-4668-3P100.0068.742635
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-656-3P100.0072.152788
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-196A-5P100.0068.16684
HSA-MIR-196B-5P100.0068.16681
HSA-MIR-10401-5P99.9965.79948
HSA-MIR-366299.9973.825684
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-4789-3P99.9970.752484
HSA-MIR-480399.9871.993117
HSA-MIR-56899.9869.862084
HSA-MIR-27A-3P99.9872.132955
HSA-MIR-27B-3P99.9872.132955
HSA-MIR-998599.9872.112939
HSA-MIR-302C-5P99.9772.563642
HSA-MIR-548AT-5P99.9670.832666
HSA-MIR-551B-5P99.9671.283493
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-96-5P99.9572.802140
HSA-MIR-141-3P99.9472.792421
HSA-MIR-200A-3P99.9472.682420
HSA-MIR-548J-3P99.9472.614881
HSA-MIR-4760-3P99.9370.502385
HSA-MIR-548AE-3P99.9372.664867
HSA-MIR-548AH-3P99.9372.544872
HSA-MIR-548AM-3P99.9372.544872
HSA-MIR-548AQ-3P99.9372.664867

Literature-anchored findings (GeneRIF, showing 1)

  • KLHL4, a novel p53 target gene, inhibits cell proliferation by activating p21(WAF/CDKN1A). (PMID:32753315)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerioklhl4ENSDARG00000016531
mus_musculusKlhl4ENSMUSG00000025597
rattus_norvegicusKlhl4ENSRNOG00000005215

Paralogs (54): KLHL13 (ENSG00000003096), KLHL20 (ENSG00000076321), KEAP1 (ENSG00000079999), KLHL42 (ENSG00000087448), KLHL22 (ENSG00000099910), KLHL2 (ENSG00000109466), KLHL5 (ENSG00000109790), BACH2 (ENSG00000112182), KLHL18 (ENSG00000114648), KLHL24 (ENSG00000114796), IVNS1ABP (ENSG00000116679), KLHL12 (ENSG00000117153), KLHL29 (ENSG00000119771), KBTBD7 (ENSG00000120696), KLHL7 (ENSG00000122550), KLHL31 (ENSG00000124743), KLHDC7B (ENSG00000130487), KLHL36 (ENSG00000135686), KLHL8 (ENSG00000145332), KLHL3 (ENSG00000146021), KLHL35 (ENSG00000149243), KLHL1 (ENSG00000150361), BACH1 (ENSG00000156273), KLHL40 (ENSG00000157119), KLHL10 (ENSG00000161594), KLHL21 (ENSG00000162413), KLHDC8A (ENSG00000162873), KBTBD8 (ENSG00000163376), KBTBD6 (ENSG00000165572), KLHL26 (ENSG00000167487), KLHL30 (ENSG00000168427), KBTBD2 (ENSG00000170852), KLHL6 (ENSG00000172578), KLHL15 (ENSG00000174010), KLHL38 (ENSG00000175946), KBTBD11 (ENSG00000176595), KLHDC7A (ENSG00000179023), KLHL28 (ENSG00000179454), KBTBD3 (ENSG00000182359), KLHL33 (ENSG00000185271)

Protein

Protein identifiers

Kelch-like protein 4Q9C0H6 (reviewed: Q9C0H6)

All UniProt accessions (2): Q9C0H6, A5PKX1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm. Cytoskeleton.

Tissue specificity. Expressed in adult fibroblasts and in a range of fetal tissues including tongue, palate, and mandible.

Isoforms (2)

UniProt IDNamesCanonical?
Q9C0H6-11yes
Q9C0H6-22, KLHL4c

RefSeq proteins (2): NP_061990, NP_476503 (=MANE)

Domains & families (InterPro)

IDNameType
IPR000210BTB/POZ_domDomain
IPR006652Kelch_1Repeat
IPR011333SKP1/BTB/POZ_sfHomologous_superfamily
IPR011705BACKDomain
IPR015915Kelch-typ_b-propellerHomologous_superfamily
IPR056737Beta-prop_ATRN-MKLN-likeDomain

Pfam: PF00651, PF07707, PF24981

UniProt features (10 total): repeat 6, chain 1, domain 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9C0H6-F180.370.68

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 155 (showing top): RNGTGGGC_UNKNOWN, MODULE_255, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_DN, MODULE_317, ZHAN_MULTIPLE_MYELOMA_CD1_UP, ATTACAT_MIR3803P, GOMF_ACTIN_BINDING, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEIN_CATABOLIC_PROCESS, ZHAN_MULTIPLE_MYELOMA_CD1_VS_CD2_UP, TGGAAA_NFAT_Q4_01, GOCC_TRANSFERASE_COMPLEX, BENPORATH_OCT4_TARGETS, TAATTA_CHX10_01

GO Biological Process (1): proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)

GO Molecular Function (3): actin binding (GO:0003779), ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)

GO Cellular Component (7): cytoplasm (GO:0005737), cilium (GO:0005929), microtubule cytoskeleton (GO:0015630), Cul3-RING ubiquitin ligase complex (GO:0031463), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
ubiquitin-dependent protein catabolic process1
proteasomal protein catabolic process1
cytoskeletal protein binding1
enzyme-substrate adaptor activity1
binding1
intracellular anatomical structure1
intraciliary transport particle1
membrane-bounded organelle1
plasma membrane bounded cell projection1
cytoskeleton1
cullin-RING ubiquitin ligase complex1
centrosome1
microtubule organizing center1
cilium1
intracellular membraneless organelle1

Protein interactions and networks

STRING

678 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
KLHL4CPXCR1Q8N123695
KLHL4SATL1Q86VE3590
KLHL4DACH2Q96NX9489
KLHL4SH3BGRLO75368431
KLHL4OR4N5Q8IXE1423
KLHL4APOOLQ6UXV4419
KLHL4OR4K14Q8NGD5399
KLHL4GRPRP30550398
KLHL4POF1BQ8WVV4392
KLHL4DHRSXQ8N5I4388
KLHL4PCDH11XQ9BZA7387
KLHL4PUDPQ08623387
KLHL4CYLC1P35663384
KLHL4PLCXD1Q9NUJ7384
KLHL4GTPBP6O43824383

IntAct

9 interactions, top by confidence:

ABTypeScore
KLHL1CUL3psi-mi:“MI:0914”(association)0.560
KLHL4NUDCD3psi-mi:“MI:0915”(physical association)0.400
NUDCD2KLHL4psi-mi:“MI:0915”(physical association)0.400
ORF21USP9Ypsi-mi:“MI:0914”(association)0.350
CUL3PXDNLpsi-mi:“MI:0914”(association)0.350
KLHL4CUL1psi-mi:“MI:0914”(association)0.350
DISC1KLHL4psi-mi:“MI:0915”(physical association)0.000
DSCAMKLHL4psi-mi:“MI:0915”(physical association)0.000

BioGRID (48): KLHL4 (Affinity Capture-MS), KLHL4 (PCA), TP53 (Affinity Capture-Western), KLHL4 (Affinity Capture-Western), KLHL4 (Affinity Capture-Western), KLHL4 (Two-hybrid), KLHL4 (Cross-Linking-MS (XL-MS)), KLHL4 (Affinity Capture-MS), KLHL4 (Affinity Capture-Western), CUL3 (Affinity Capture-Western), KLHL4 (Affinity Capture-Western), KLHL4 (Affinity Capture-MS), CUL3 (Affinity Capture-MS), KLHL5 (Affinity Capture-MS), KLHL1 (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8Q1W5, A6QQY2, B0WWP2, B3NDN0, B4HIK1, B4L0G9, B4LIG6, B4PD06, D3Z8N4, E0CZ16, E1B932, E7F6F9, E9Q4F2, F1LZ52, O94889, P28575, P57790, P59280, Q08DK3, Q14145, Q16RL8, Q2T9Z7, Q53G59, Q5R774, Q5R7B8, Q5U374, Q5ZKD9, Q5ZLD3, Q684M4, Q6DFF6, Q6JEL2, Q6JEL3, Q6NRH0, Q6TDP3, Q6TDP4, Q6ZPT1, Q7QGL0, Q80TF4, Q8BZM0, Q8K430

Diamond homologs: A0A1B8YAB1, A1YPR0, B0WWP2, B1H285, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, C9JR72, D3Z8N4, E0CZ16, G3X9X1, O15062, O88939, O93567, O95365, P28575, P41182, P41183, Q08CL3, Q08DK3, Q13105, Q16RL8, Q2M0J9, Q3UQV5, Q52KB5, Q5EXX3, Q5R7B8, Q5RDY3, Q5TC79, Q5ZI33, Q5ZKD9, Q5ZM39, Q60821

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance55
Likely benign6
Benign0

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
832217NC_000023.10:g.(?83372068)(86890775_?)delPathogenic

SpliceAI

1786 predictions. Top by Δscore:

VariantEffectΔscore
X:87518311:GCAAG:Gdonor_gain1.0000
X:87518314:AGGT:Adonor_loss1.0000
X:87518315:GGT:Gdonor_loss1.0000
X:87613875:A:AGacceptor_gain1.0000
X:87613876:G:GCacceptor_gain1.0000
X:87613876:GA:Gacceptor_gain1.0000
X:87613876:GAT:Gacceptor_gain1.0000
X:87613876:GATT:Gacceptor_gain1.0000
X:87613876:GATTA:Gacceptor_gain1.0000
X:87614040:CATAG:Cdonor_gain1.0000
X:87614041:ATAG:Adonor_gain1.0000
X:87614042:TAG:Tdonor_gain1.0000
X:87614043:AG:Adonor_gain1.0000
X:87614043:AGGT:Adonor_loss1.0000
X:87614044:GG:Gdonor_gain1.0000
X:87614045:G:GGdonor_gain1.0000
X:87614045:GTAA:Gdonor_loss1.0000
X:87614429:TCCA:Tacceptor_loss1.0000
X:87614430:CCA:Cacceptor_loss1.0000
X:87614431:CAGGT:Cacceptor_loss1.0000
X:87614432:AG:Aacceptor_gain1.0000
X:87614432:AGGTT:Aacceptor_gain1.0000
X:87614433:G:Aacceptor_loss1.0000
X:87614433:GG:Gacceptor_gain1.0000
X:87614433:GGTT:Gacceptor_gain1.0000
X:87614433:GGTTG:Gacceptor_gain1.0000
X:87614567:ACAG:Adonor_gain1.0000
X:87614571:G:GAdonor_loss1.0000
X:87614571:G:GGdonor_gain1.0000
X:87617921:A:AGacceptor_gain1.0000

AlphaMissense

4720 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
X:87614038:C:AA195D1.000
X:87614442:T:AL200H1.000
X:87614442:T:CL200P1.000
X:87614475:T:CF211S1.000
X:87617979:G:CA259P1.000
X:87618028:T:CL275P1.000
X:87618056:C:GC284W1.000
X:87622340:T:AW352R1.000
X:87622340:T:CW352R1.000
X:87625743:G:CR424T1.000
X:87625744:A:CR424S1.000
X:87625744:A:TR424S1.000
X:87625776:G:AG435E1.000
X:87632329:G:AG482R1.000
X:87632329:G:CG482R1.000
X:87632330:G:AG482E1.000
X:87632330:G:TG482V1.000
X:87632332:G:AG483R1.000
X:87632332:G:CG483R1.000
X:87632333:G:AG483E1.000
X:87632333:G:TG483V1.000
X:87632422:C:GR513G1.000
X:87632423:G:CR513P1.000
X:87633775:T:GY526D1.000
X:87633779:C:AA527D1.000
X:87633784:G:CG529R1.000
X:87633785:G:AG529D1.000
X:87633785:G:TG529V1.000
X:87633787:G:CG530R1.000
X:87633788:G:AG530D1.000

dbSNP variants (sampled 300 via entrez): RS1000000039 (X:87622860 G>A), RS1000056566 (X:87565919 A>C), RS1000073224 (X:87524751 G>A), RS1000079775 (X:87631109 C>A,T), RS1000097467 (X:87632945 G>A), RS1000128028 (X:87565467 C>A), RS1000171983 (X:87530064 T>C), RS1000182090 (X:87530356 G>C), RS1000183131 (X:87614669 T>C), RS1000204470 (X:87529829 T>C), RS1000279087 (X:87652321 A>C), RS1000279608 (X:87668325 G>A), RS1000315206 (X:87540888 A>C), RS1000369958 (X:87548577 A>T), RS1000401087 (X:87531272 T>G)

Disease associations

OMIM: gene MIM:300348 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): intellectual disability (MONDO:0001071)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

1 associations (top):

StudyTraitp-value
GCST007600_22Alzheimer’s disease1.000000e-06

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

41 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression, affects expression7
Benzo(a)pyreneincreases expression, increases mutagenesis, decreases expression, decreases methylation4
Phenylmercuric Acetateaffects cotreatment, increases expression2
Tetrachlorodibenzodioxinincreases expression, decreases expression2
Aflatoxin B1affects expression, decreases methylation2
Particulate Matterdecreases expression, increases abundance2
testosterone undecanoateaffects cotreatment, decreases expression1
trichostatin Aincreases expression1
sodium arsenitedecreases expression1
cobaltous chloridedecreases expression1
potassium chromate(VI)decreases expression1
S-(1,2-dichlorovinyl)cysteineaffects response to substance, increases expression, affects cotreatment, decreases expression1
mercuric bromideaffects cotreatment, increases expression1
perfluorooctane sulfonic aciddecreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
ICG 001decreases expression1
abrineincreases expression1
dorsomorphinaffects cotreatment, increases expression1
jinfukangaffects cotreatment, decreases expression1
incobotulinumtoxinAdecreases expression1
NSC 689534affects binding, increases expression1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinoneincreases expression1
Sunitinibdecreases expression1
Air Pollutantsdecreases expression, increases abundance1
Ethanolaffects cotreatment, increases expression1
Carbamazepineaffects expression1
Cisplatindecreases expression, affects cotreatment1
Copperaffects binding, increases expression1
Diethylhexyl Phthalatedecreases expression1
Doxorubicindecreases expression1

Clinical trials (associated diseases)

197 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
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