ATXN3L

Summary

ATXN3L (ataxin 3 like, HGNC:24173) is a protein-coding gene on chromosome Xp22.2, encoding Ataxin-3-like protein (Q9H3M9). Deubiquitinating enzyme that cleaves both ‘Lys-48’-linked and ‘Lys-63’-linked poly-ubiquitin chains (in vitro).

This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease.

Source: NCBI Gene 92552 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 50 total — 1 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_001135995

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24173
Approved symbol	ATXN3L
Name	ataxin 3 like
Location	Xp22.2
Locus type	gene with protein product
Status	Approved
Aliases	ATXN3L1, MJDL
Ensembl gene	ENSG00000123594
Ensembl biotype	protein_coding
OMIM	300920
Entrez	92552

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000380622

RefSeq mRNA: 2 — MANE Select: NM_001135995 NM_001135995, NM_001387036

CCDS: CCDS48080

Canonical transcript exons

ENST00000380622 — 1 exons

Exon	Start	End
ENSE00001688743	13318647	13320053

Expression profiles

Bgee: expression breadth broad, 16 present calls, max score 78.97.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0019 / max 2.2548, expressed in 1 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
198456	0.0019	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	78.97	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.85	gold quality
male germ cell	CL:0000015	76.57	gold quality
left testis	UBERON:0004533	60.05	gold quality
testis	UBERON:0000473	59.13	gold quality
right testis	UBERON:0004534	58.85	gold quality
pancreatic ductal cell	CL:0002079	58.58	silver quality
deltoid	UBERON:0001476	52.81	gold quality
ileal mucosa	UBERON:0000331	51.07	silver quality
epithelial cell of pancreas	CL:0000083	50.95	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
hair follicle	UBERON:0002073	49.18	gold quality
quadriceps femoris	UBERON:0001377	49.10	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
myocardium	UBERON:0002349	48.87	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality
vastus lateralis	UBERON:0001379	48.25	gold quality
left ventricle myocardium	UBERON:0006566	48.24	gold quality
orbitofrontal cortex	UBERON:0004167	48.20	gold quality
upper arm skin	UBERON:0004263	48.06	gold quality
cervix epithelium	UBERON:0004801	48.04	gold quality
oviduct epithelium	UBERON:0004804	48.00	gold quality
tongue squamous epithelium	UBERON:0006919	47.92	gold quality
mucosa of urinary bladder	UBERON:0001259	47.80	gold quality
metanephric glomerulus	UBERON:0004736	47.45	gold quality
thymus	UBERON:0002370	47.42	gold quality
kidney epithelium	UBERON:0004819	47.39	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.31

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

15 targeting ATXN3L, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-409-3P	99.50	66.33	1192
HSA-MIR-4735-5P	99.43	68.49	1780
HSA-MIR-3978	99.24	68.39	2201
HSA-MIR-302F	98.44	69.02	1776
HSA-MIR-6072	98.00	66.47	804
HSA-MIR-212-5P	96.83	67.43	950
HSA-MIR-4433A-5P	96.79	65.01	599
HSA-MIR-4703-3P	96.68	68.61	545
HSA-MIR-10525-3P	96.32	68.04	699
HSA-MIR-6891-3P	95.80	65.76	683
HSA-MIR-4781-3P	95.78	65.66	572

Literature-anchored findings (GeneRIF, showing 1)

• ATXN3L has a role in the regulation of KLF5 stability in breast cancer (PMID:26079537)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	atxn3	ENSDARG00000099274
mus_musculus	Atxn3	ENSMUSG00000021189
rattus_norvegicus	Atxn3	ENSRNOG00000005470
caenorhabditis_elegans		WBGENE00006446

Paralogs (1): ATXN3 (ENSG00000066427)

Protein

Protein identifiers

Ataxin-3-like protein — Q9H3M9 (reviewed: Q9H3M9)

Alternative names: Machado-Joseph disease protein 1-like

All UniProt accessions (1): Q9H3M9

UniProt curated annotations — full annotation on UniProt →

Function. Deubiquitinating enzyme that cleaves both ‘Lys-48’-linked and ‘Lys-63’-linked poly-ubiquitin chains (in vitro). Acts as a deubiquitinating enzyme for the transcription factor KLF5, playing a role in the regulation of KLF5 stability.

Subcellular location. Nucleus.

Tissue specificity. Widely expressed.

Miscellaneous. Identified only in primates. ATXN3L appeared to have arisen relatively recently, just prior to the first major division between hominids and old world monkeys.

RefSeq proteins (2): NP_001129467, NP_001373965 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003903	UIM_dom	Conserved_site
IPR006155	Josephin	Domain
IPR033865	Ataxin-3	Family

Pfam: PF02099, PF02809, PF16619

UniProt features (35 total): helix 10, strand 8, domain 3, active site 3, compositionally biased region 3, sequence variant 2, sequence conflict 2, region of interest 2, chain 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3O65	X-RAY DIFFRACTION	2.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H3M9-F1	71.85	0.30

Functional residue map

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

Catalytic / active sites (3): 119 (proton acceptor); 134; 14 (nucleophile)

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-5689877	Josephin domain DUBs
R-HSA-392499	Metabolism of proteins
R-HSA-5688426	Deubiquitination
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 74 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_TOR_SIGNALING, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_TOR_SIGNALING, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS

GO Biological Process (6): protein quality control for misfolded or incompletely synthesized proteins (GO:0006515), protein deubiquitination (GO:0016579), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), negative regulation of TORC1 signaling (GO:1904262), positive regulation of ERAD pathway (GO:1904294), proteolysis (GO:0006508)

GO Molecular Function (4): cysteine-type deubiquitinase activity (GO:0004843), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787)

GO Cellular Component (2): nucleus (GO:0005634), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Deubiquitination	1
Post-translational protein modification	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein catabolic process	1
cysteine-type deubiquitinase activity	1
protein modification by small protein removal	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
negative regulation of TOR signaling	1
TORC1 signaling	1
regulation of TORC1 signaling	1
ERAD pathway	1
positive regulation of proteasomal protein catabolic process	1
regulation of ERAD pathway	1
positive regulation of response to endoplasmic reticulum stress	1
protein metabolic process	1
cysteine-type peptidase activity	1
deubiquitinase activity	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
catalytic activity	1
intracellular membrane-bounded organelle	1
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1226 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATXN3L	ITPR1	Q14643	965
ATXN3L	RAD23B	P54727	965
ATXN3L	RAD23A	P54725	965
ATXN3L	VCP	P55072	944
ATXN3L	UBQLN1	Q9UMX0	921
ATXN3L	HTT	P42858	895
ATXN3L	JOSD1	Q15040	861
ATXN3L	STUB1	Q9UNE7	852
ATXN3L	PRKN	O60260	824
ATXN3L	BECN1	Q14457	796
ATXN3L	HCRT	O43612	791
ATXN3L	ST13	P50502	783
ATXN3L	HDAC6	Q9UBN7	781
ATXN3L	UBE2W	Q96B02	781
ATXN3L	ATXN1	P54253	761

IntAct

3 interactions, top by confidence:

A	B	Type	Score
ATXN3L	HMGA1	psi-mi:“MI:0915”(physical association)	0.400
ATXN3L	MTA2	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (24): UBC (Biochemical Activity), ATXN3L (Affinity Capture-Western), KLF5 (Affinity Capture-Western), KLF5 (Reconstituted Complex), KLF5 (Biochemical Activity), ATXN3L (Proximity Label-MS), ATXN3L (Proximity Label-MS), AURKA (Affinity Capture-Western), ATXN3L (Cross-Linking-MS (XL-MS)), GATAD2B (Cross-Linking-MS (XL-MS)), HDAC1 (Cross-Linking-MS (XL-MS)), HDAC2 (Cross-Linking-MS (XL-MS)), MTA1 (Cross-Linking-MS (XL-MS)), MTA2 (Cross-Linking-MS (XL-MS)), RBBP7 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A0R4IXF6, A1L2G3, A2VDM8, B0W2R4, B3MIV9, B3NPV7, B4GAM2, B4HST0, B4JW98, B4KT51, B4LQ24, B4P6P6, B4QHH0, C4A0D9, D3YXJ0, D3ZHS6, E9PUQ8, F6QZ15, F6Z5C0, G3X9K3, O01991, O46382, O80866, O82486, P27448, P53204, P57080, Q03141, Q06178, Q17N72, Q1LUC3, Q24574, Q291J4, Q2HVD6, Q64398, Q6INA9, Q7K5N4, Q7Z569, Q86XP1, Q8L751

Diamond homologs: O17850, O35815, P54252, Q60XN1, Q8LQ36, Q9CVD2, Q9H3M9, Q9M391, Q9W689, Q8TAC2, Q9CR30

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	42
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2423466	NC_000023.10:g.(?12885698)(13787227_?)del	Pathogenic

SpliceAI

104 predictions. Top by Δscore:

Variant	Effect	Δscore
X:13319436:CCT:C	acceptor_gain	0.8700
X:13319521:C:T	acceptor_gain	0.7700
X:13319695:TATTA:T	donor_loss	0.7400
X:13319697:TTA:T	donor_loss	0.7400
X:13319698:TACCT:T	donor_loss	0.7400
X:13319699:A:C	donor_loss	0.7400
X:13319700:CCT:C	donor_loss	0.7400
X:13319438:T:C	acceptor_gain	0.7000
X:13319701:C:A	donor_loss	0.6700
X:13319435:CC:C	acceptor_gain	0.6200
X:13319521:C:CT	acceptor_gain	0.6100
X:13319437:C:T	acceptor_gain	0.6000
X:13319590:A:C	donor_gain	0.5300
X:13319693:CTTAT:C	donor_loss	0.5000
X:13319694:TTATT:T	donor_loss	0.5000
X:13319438:T:TC	acceptor_gain	0.4900
X:13319438:TTG:T	acceptor_gain	0.4900
X:13319434:ACCCT:A	acceptor_loss	0.4800
X:13319435:CCC:C	acceptor_loss	0.4800
X:13319436:CC:C	acceptor_loss	0.4800
X:13319437:C:CA	acceptor_loss	0.4800
X:13319446:A:T	acceptor_loss	0.4800
X:13319448:A:C	acceptor_loss	0.4800
X:13319702:T:C	donor_loss	0.4800
X:13319451:C:CT	acceptor_loss	0.4700
X:13319439:T:A	acceptor_gain	0.4600
X:13319452:A:T	acceptor_loss	0.4600
X:13319764:CTCT:C	donor_gain	0.4600
X:13319765:TCTT:T	donor_gain	0.4600
X:13319766:CTTC:C	donor_gain	0.4600

AlphaMissense

2379 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:13319563:T:A	R124S	0.999
X:13319563:T:G	R124S	0.999
X:13319564:C:G	R124T	0.999
X:13319441:A:T	V165D	0.998
X:13319577:A:G	W120R	0.998
X:13319577:A:T	W120R	0.998
X:13319870:A:G	L22P	0.998
X:13319881:A:C	C18W	0.998
X:13319564:C:A	R124I	0.997
X:13319565:T:C	R124G	0.997
X:13319684:A:C	L84W	0.997
X:13319837:A:G	L33S	0.997
X:13319547:A:G	W130R	0.996
X:13319547:A:T	W130R	0.996
X:13319599:A:C	F112L	0.996
X:13319599:A:T	F112L	0.996
X:13319601:A:G	F112L	0.996
X:13319710:G:C	F75L	0.996
X:13319710:G:T	F75L	0.996
X:13319712:A:G	F75L	0.996
X:13319444:A:T	V164D	0.995
X:13319575:C:A	W120C	0.995
X:13319575:C:G	W120C	0.995
X:13319600:A:G	F112S	0.995
X:13319684:A:G	L84S	0.995
X:13319863:T:A	Q24H	0.995
X:13319863:T:G	Q24H	0.995
X:13319867:A:G	L23S	0.995
X:13319879:A:G	L19P	0.995
X:13319446:A:C	F163L	0.994

dbSNP variants (sampled 300 via entrez): RS1000929284 (X:13319809 T>C), RS1000960651 (X:13320199 G>A), RS1001541188 (X:13321364 A>C), RS1001614694 (X:13321794 T>C), RS1002084312 (X:13320644 A>G), RS1006803980 (X:13319991 A>G), RS1012381579 (X:13318438 C>T), RS1012689560 (X:13319097 T>G), RS1014781213 (X:13320904 T>C), RS1015679330 (X:13321260 C>T), RS1016477092 (X:13318382 G>A,T), RS1016508032 (X:13318737 C>G), RS1016816651 (X:13320001 C>A,G), RS1016847600 (X:13320422 A>G), RS1018492084 (X:13321914 A>G)

Disease associations

OMIM: gene MIM:300920 | disease phenotypes: MIM:311200, MIM:213300

GenCC curated gene-disease

Mondo (3): orofaciodigital syndrome I (MONDO:0010702), Joubert syndrome (MONDO:0018772), intellectual disability (MONDO:0001071)

Orphanet (3): Orofaciodigital syndrome type 1 (Orphanet:2750), Isolated Joubert syndrome (Orphanet:475), 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):

Study	Trait	p-value
GCST008103_144	Bipolar disorder	3.000000e-06

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
C537134	Orofaciodigital syndrome type1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4630855 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
butyraldehyde	decreases expression	1
CGP 52608	affects binding, increases reaction	1
MT19c compound	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Camptothecin	decreases response to substance	1
Diethylhexyl Phthalate	increases expression	1
Rotenone	increases expression	1
Valproic Acid	decreases methylation	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4606005	Binding	Inhibition of human 6His-tagged Ataxin-3L expressed in Escherichia coli assessed as cleavage of Ubiquitin-Rhodamine110-glycine to Ubiquitin and Rhodamine110-glycine using Ubiquitin-Rhodamine110-glycine as substrate by fluorescence based ana	Discovery of Potent, Selective, and Orally Bioavailable Inhibitors of USP7 with In Vivo Antitumor Activity. — J Med Chem

Clinical trials (associated diseases)

200 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)
NCT00873678	Not specified	COMPLETED	Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
NCT01401998	Not specified	RECRUITING	ARPKD Database Study
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
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)