STH

Summary

STH (saitohin, HGNC:18839) is a protein-coding gene on chromosome 17q21.31, encoding Saitohin (Q8IWL8).

Involved in positive regulation of mRNA splicing, via spliceosome. Located in several cellular components, including Golgi apparatus; nucleoplasm; and perinuclear region of cytoplasm.

Source: NCBI Gene 246744 — RefSeq curated summary.

At a glance

• GWAS associations: 17
• Clinical variants (ClinVar): 4 total — 3 pathogenic
• MANE Select transcript: NM_001007532

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18839
Approved symbol	STH
Name	saitohin
Location	17q21.31
Locus type	gene with protein product
Status	Approved
Aliases	MAPTIT
Ensembl gene	ENSG00000256762
Ensembl biotype	protein_coding
OMIM	607067
Entrez	246744

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000537309

RefSeq mRNA: 1 — MANE Select: NM_001007532 NM_001007532

CCDS: CCDS54136

Canonical transcript exons

ENST00000537309 — 1 exons

Exon	Start	End
ENSE00002315754	45999250	45999694

Expression profiles

Bgee: expression breadth broad, 70 present calls, max score 87.89.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.89	gold quality
corpus callosum	UBERON:0002336	69.95	gold quality
cerebellar hemisphere	UBERON:0002245	64.51	gold quality
cerebellar cortex	UBERON:0002129	64.39	gold quality
cerebellum	UBERON:0002037	64.35	gold quality
right hemisphere of cerebellum	UBERON:0014890	63.03	gold quality
skeletal muscle tissue	UBERON:0001134	57.63	gold quality
gastrocnemius	UBERON:0001388	54.67	gold quality
caudate nucleus	UBERON:0001873	53.93	gold quality
muscle of leg	UBERON:0001383	53.82	gold quality
right frontal lobe	UBERON:0002810	53.56	gold quality
hypothalamus	UBERON:0001898	53.32	gold quality
Ammon’s horn	UBERON:0001954	53.01	gold quality
primary visual cortex	UBERON:0002436	52.68	gold quality
cortical plate	UBERON:0005343	52.61	gold quality
putamen	UBERON:0001874	52.30	gold quality
brain	UBERON:0000955	51.70	gold quality
anterior cingulate cortex	UBERON:0009835	50.13	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	49.91	gold quality
amygdala	UBERON:0001876	49.75	gold quality
Brodmann (1909) area 9	UBERON:0013540	49.69	gold quality
substantia nigra	UBERON:0002038	49.53	gold quality
temporal lobe	UBERON:0001871	49.45	gold quality
cerebral cortex	UBERON:0000956	49.38	gold quality
nucleus accumbens	UBERON:0001882	49.20	gold quality
muscle tissue	UBERON:0002385	48.89	gold quality
mucosa of stomach	UBERON:0001199	47.47	gold quality
frontal cortex	UBERON:0001870	47.38	gold quality
superior frontal gyrus	UBERON:0002661	45.25	gold quality
lower esophagus mucosa	UBERON:0035834	44.61	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 19)

• a gene within an intron of the tau gene; Q7R polymorphism appears to be over-represented in the homozygous state in late onset Alzheimer’s disease subjects (PMID:12032355)
• The saitohin Q allele, a novel determinant of tau H1 haplotypes, may represent a causative factor involved in the determinism of several tauopathies, e.g., frontotemporal dementia. (PMID:12447938)
• At the STH gene only a common polymorphic change was found. (PMID:12826737)
• Increased risk of Alzheimer’s disease associated with the STH RR genotype is limited to late-onset Alzheimer’s disease. (PMID:12826738)
• The R allele of STH is associated with the H2 haplotype of tau; no correlation is found between R allele frequency and Alzheimer’s or Parkinson’s disease. (PMID:12932819)
• Saitohin interacts with peroxiredoxin 6, a unique member of that family that is bifunctional and the levels of which increase in Pick disease. (PMID:16186110)
• We found no evidence that could support a major pathogenic role of STH and TAU haplotype in AD, FTD or PD. (PMID:16909000)
• Q allele of STH gene is over-represented in a tested group of patients with Huntington disease and might be considered a risk factor for HD like diseases. (PMID:18300012)
• Homozygous Q/Q of STH Q7R polymorphism was the only one genotype found in either LOAD group or controls. No R allele was detected in LOAD and control groups. (PMID:18396294)
• The Saitohin Q7R polymorphism is unlikely to contribute significantly to Alzheimer’s disease susceptibility of the Han population in south China. (PMID:18850062)
• STH polymorphisms play a possibly shared role with those of serotinin transporter 5-HTTLPR gene as a susceptibility factor for Alzheimer’s disease and frontotemperal lobar dementia. (PMID:20852909)
• effect of Saitohin on Abl-mediated phosphorylation appears to be allele-specific, providing evidence for a new cellular function for STH (PMID:21769920)
• Single polymorphisms within the saitohin gene were associated with increased cognitive impairment and functional dependence persons with moderate-to-advanced Alzheimer disease. (PMID:21934306)
• These results suggest a possible contribution of STH gene products on the heterogeneity of core frontal executive functions deterioration in schizophrenia (PMID:22187337)
• The rs6203857 polymorphism of the saitohin gene is a genetic risk factor for Parkinson’s disease. (PMID:25168738)
• Results showed a significant interaction effect of COMT and STH polymorphisms on cognitive performances, strengthening the involvement of STH in cognitive impairments, especially in the domains commonly impaired in schizophrenia (PMID:25283873)
• results of this meta-analysis suggested that MAPT_238bp/STH Q7R polymorphisms might modulate the risk of Parkinson’s disease susceptibility (PMID:25305495)
• Saitohin Q7R polymorphism is associated with late-onset Alzheimer’s disease susceptibility among caucasian populations. (Meta-analysis) (PMID:28211174)
• Association of Saitohin gene rs62063857 polymorphism with dry type age-related macular degeneration. (PMID:32615840)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Saitohin — Q8IWL8 (reviewed: Q8IWL8)

All UniProt accessions (1): Q8IWL8

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Interacts with PRDX6.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Highest expression in placenta, muscle, fetal brain, and adult brain, with lower expression in heart, kidney, stomach, testis, and adrenal gland. In the central nervous system, highest expression is in temporal lobe, hypothalamus, medulla and spinal cord, with lower expression in other brain regions.

Polymorphism. The Arg-7 polymorphism may be associated with progressive supranuclear palsy.

Miscellaneous. Was called ‘saitohin’ in honor of the late Tsuanao Saitoh and his laboratory.

RefSeq proteins (1): NP_001007533* (*=MANE)

Domains & families (InterPro)

UniProt features (3 total): chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IWL8-F1	57.88	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 24 (showing top): GOBP_POSITIVE_REGULATION_OF_RNA_SPLICING, GOBP_POSITIVE_REGULATION_OF_MRNA_PROCESSING, GOBP_RNA_SPLICING, GOBP_REGULATION_OF_MRNA_SPLICING_VIA_SPLICEOSOME, GOBP_REGULATION_OF_RNA_SPLICING, GOBP_REGULATION_OF_MRNA_PROCESSING, GOBP_MRNA_PROCESSING, GOBP_REGULATION_OF_MRNA_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_MRNA_METABOLIC_PROCESS, NFKBIA_TARGET_GENES, ZNF436_TARGET_GENES, ZNF92_TARGET_GENES, GSE13485_DAY3_VS_DAY21_YF17D_VACCINE_PBMC_DN, GSE13485_DAY7_VS_DAY21_YF17D_VACCINE_PBMC_DN, GOBP_POSITIVE_REGULATION_OF_GENE_EXPRESSION

GO Biological Process (1): positive regulation of mRNA splicing, via spliceosome (GO:0048026)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytosol (GO:0005829), perinuclear region of cytoplasm (GO:0048471)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	3
intracellular membrane-bounded organelle	2
mRNA splicing, via spliceosome	1
positive regulation of RNA splicing	1
regulation of mRNA splicing, via spliceosome	1
positive regulation of mRNA processing	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
endomembrane system	1

Protein interactions and networks

STRING

260 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STH	KANSL1	Q7Z3B3	904
STH	CRHR1	P34998	841
STH	MAPT	P10636	786
STH	H1-2	P16403	723
STH	GH1	P01241	696
STH	WNT3	P56703	689
STH	POMC	P01189	663
STH	PRDX6	P30041	652
STH	NPR3	P17342	641
STH	PRL	P01236	577
STH	SPPL2C	Q8IUH8	575
STH	GYPE	P15421	543
STH	GUCA2B	Q16661	542
STH	APOE	P02649	531
STH	GUCA2A	Q02747	507

IntAct

53 interactions, top by confidence:

A	B	Type	Score
STH	PEF1	psi-mi:“MI:0915”(physical association)	0.560
MKRN3	STH	psi-mi:“MI:0915”(physical association)	0.560
PITX1	STH	psi-mi:“MI:0915”(physical association)	0.560
STH	NTAQ1	psi-mi:“MI:0915”(physical association)	0.560
TLX3	STH	psi-mi:“MI:0915”(physical association)	0.560
STH	CSTF2T	psi-mi:“MI:0915”(physical association)	0.560
FRS3	STH	psi-mi:“MI:0915”(physical association)	0.560
STH	TFG	psi-mi:“MI:0915”(physical association)	0.560
SOHLH1	STH	psi-mi:“MI:0915”(physical association)	0.560
SNRPC	STH	psi-mi:“MI:0915”(physical association)	0.560
VPS37C	STH	psi-mi:“MI:0915”(physical association)	0.560
SUOX	STH	psi-mi:“MI:0915”(physical association)	0.560
CSTF2	STH	psi-mi:“MI:0915”(physical association)	0.560
STH	SMARCD1	psi-mi:“MI:0915”(physical association)	0.560
POGZ	STH	psi-mi:“MI:0915”(physical association)	0.560
APP	STH	psi-mi:“MI:0915”(physical association)	0.560
PEF1	STH	psi-mi:“MI:0915”(physical association)	0.000
MKRN3	STH	psi-mi:“MI:0915”(physical association)	0.000
PITX1	STH	psi-mi:“MI:0915”(physical association)	0.000
POGZ	STH	psi-mi:“MI:0915”(physical association)	0.000
SNRPC	STH	psi-mi:“MI:0915”(physical association)	0.000
NTAQ1	STH	psi-mi:“MI:0915”(physical association)	0.000
TLX3	STH	psi-mi:“MI:0915”(physical association)	0.000
CSTF2T	STH	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (19): STH (Affinity Capture-Western), PRDX6 (Reconstituted Complex), PRDX6 (Two-hybrid), STH (Two-hybrid), STH (Two-hybrid), STH (Two-hybrid), STH (Two-hybrid), STH (Two-hybrid), STH (Two-hybrid), STH (Two-hybrid), STH (Two-hybrid), STH (Two-hybrid), STH (Two-hybrid), STH (Two-hybrid), STH (Two-hybrid)

ESM2 similar proteins: A0A096LPI5, A0A0A0MT76, A4D1N5, A6NM66, A8MUN3, B1ANH7, F5HDA4, O76042, P03414, P04219, P06831, P0C092, P0C5K7, P0C7Q2, P15099, P37125, P37200, P49671, Q1W209, Q21QM3, Q2M3A8, Q4G0G2, Q5T0J3, Q5T6R2, Q5T742, Q5TEZ4, Q5VSD8, Q5W150, Q6UXP9, Q6W349, Q6ZP68, Q6ZS52, Q6ZSR6, Q6ZV60, Q6ZVU0, Q8IWL8, Q8N6C7, Q8N814, Q8TCH9, Q8TEV8

Diamond homologs: Q5YCU7, Q5YCU8, Q8IWL8

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ABL1	“up-regulates activity”	STH	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	1
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1809344	GRCh37/hg19 17q21.31(chr17:43693538-44212416)x1	Pathogenic
3024608	GRCh37/hg19 17q21.31(chr17:43738327-44172067)x1	Pathogenic
800540	Single allele	Pathogenic

SpliceAI

200 predictions. Top by Δscore:

Variant	Effect	Δscore
17:45999276:GGCCA:G	donor_gain	0.9000
17:45999277:GCCA:G	donor_gain	0.8800
17:45999284:G:GG	donor_gain	0.8700
17:45999291:TGG:T	donor_gain	0.8700
17:45999436:G:T	donor_gain	0.8500
17:45999292:GG:G	donor_gain	0.8400
17:45999283:A:AG	donor_gain	0.8100
17:45999436:G:GT	donor_gain	0.8100
17:45999384:GT:G	donor_gain	0.7900
17:45999289:G:T	donor_gain	0.7800
17:45999363:GGT:G	donor_gain	0.7700
17:45999386:G:GG	donor_gain	0.7700
17:45999280:A:G	donor_gain	0.7500
17:45999287:AGG:A	donor_gain	0.7400
17:45999288:GGG:G	donor_gain	0.7400
17:45999251:C:T	donor_gain	0.7300
17:45999280:A:AG	donor_gain	0.7300
17:45999551:G:T	donor_gain	0.7200
17:45999282:GA:G	donor_gain	0.7100
17:45999362:GGGT:G	donor_gain	0.7100
17:45999336:C:T	donor_gain	0.7000
17:45999289:G:GT	donor_gain	0.6900
17:45999368:A:G	donor_gain	0.6500
17:45999334:TGC:T	donor_gain	0.6400
17:45999469:G:GC	acceptor_gain	0.6400
17:45999296:GC:G	donor_gain	0.6300
17:45999297:CC:C	donor_gain	0.6300
17:45999302:TCTC:T	donor_gain	0.6300
17:45999404:T:TA	donor_gain	0.6100
17:45999253:T:G	donor_gain	0.6000

AlphaMissense

820 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:45999393:G:C	W38C	0.876
17:45999393:G:T	W38C	0.876
17:45999391:T:A	W38R	0.832
17:45999391:T:C	W38R	0.832
17:45999313:T:C	F12L	0.822
17:45999315:T:A	F12L	0.822
17:45999315:T:G	F12L	0.822
17:45999407:C:A	A43D	0.821
17:45999577:T:C	F100L	0.821
17:45999579:T:A	F100L	0.821
17:45999579:T:G	F100L	0.821
17:45999406:G:C	A43P	0.819
17:45999395:T:C	M39T	0.802
17:45999435:G:C	W52C	0.800
17:45999435:G:T	W52C	0.800
17:45999396:G:A	M39I	0.787
17:45999396:G:C	M39I	0.787
17:45999396:G:T	M39I	0.787
17:45999398:T:C	I40T	0.773
17:45999340:T:A	W21R	0.757
17:45999340:T:C	W21R	0.757
17:45999505:A:C	S76R	0.752
17:45999507:T:A	S76R	0.752
17:45999507:T:G	S76R	0.752
17:45999395:T:G	M39R	0.748
17:45999424:A:C	S49R	0.739
17:45999426:C:A	S49R	0.739
17:45999426:C:G	S49R	0.739
17:45999342:G:C	W21C	0.734
17:45999342:G:T	W21C	0.734

dbSNP variants (sampled 300 via entrez): RS1000324078 (17:45997405 C>T), RS1000350750 (17:45997267 C>G,T), RS1004182014 (17:45997495 C>A,T), RS1004585185 (17:45997849 C>T), RS1011296978 (17:46000159 A>C,T), RS1012416591 (17:45999443 C>G,T), RS1012880625 (17:45999715 A>T), RS1012893592 (17:46000124 C>T), RS1014483721 (17:45997914 A>G), RS1014883536 (17:45997615 G>T), RS1015257171 (17:45997496 A>C), RS1015648150 (17:45999080 G>A), RS1015834039 (17:45998669 G>A,T), RS1016297840 (17:45998973 C>A), RS1021302736 (17:46000192 C>A,T)

Disease associations

OMIM: gene MIM:607067 | disease phenotypes: MIM:610443

GenCC curated gene-disease

Mondo (2): Koolen-de Vries syndrome (MONDO:0012496), intellectual disability (MONDO:0001071)

Orphanet (2): Koolen-De Vries syndrome (Orphanet:96169), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST001445_4	Parkinson’s disease	8.000000e-52
GCST001483_2	Intracranial volume	8.000000e-15
GCST001974_3	Idiopathic pulmonary fibrosis	6.000000e-09
GCST002756_10	Subcortical brain region volumes	1.000000e-08
GCST004902_11	Parkinson’s disease	1.000000e-68
GCST005232_131	Neuroticism	8.000000e-26
GCST006661_281	Male-pattern baldness	8.000000e-29
GCST006716_14	Alcohol use disorder (total score)	5.000000e-10
GCST006914_9	Sleep duration	3.000000e-09
GCST006940_60	Neurociticism	6.000000e-32
GCST007323_40	Risk-taking tendency (4-domain principal component model)	3.000000e-08
GCST007326_117	Number of sexual partners	4.000000e-15
GCST007592_2	Handedness (Left-handed vs. non-left-handed)	1.000000e-09
GCST007594_2	Handedness (Right-handed vs. non-right-handed)	2.000000e-08
GCST008757_1	Alcohol consumption	5.000000e-23
GCST010002_124	Refractive error	8.000000e-16
GCST010703_91	Brain morphology (MOSTest)	2.000000e-65

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004886	intracranial volume measurement
EFO:0000768	idiopathic pulmonary fibrosis
EFO:0007660	neuroticism measurement
EFO:0009458	alcohol use disorder measurement
EFO:0008579	risk-taking behaviour
EFO:0009902	handedness
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; 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

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Malathion	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical 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
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT01238250	Not specified	RECRUITING	Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability