ADAT3

Summary

ADAT3 (adenosine deaminase tRNA specific 3, HGNC:25151) is a protein-coding gene on chromosome 19p13.3, encoding tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3 (Q96EY9). Non-catalytic subunit of the tRNA-specific adenosine-34 deaminase complex, composed of the ADAT2 catalytic subunit and the ADAT3 regulatory subunit, which deaminates adenosine-34 (the first, also called wobble position of the anticodon) to inosine in many tRNAs. It is a selective cancer dependency (DepMap: 38.1% of cell lines).

This gene encodes a subunit of a tRNA-specific adenosine deaminase. This heterodimeric enzyme converts adenosine to inosine in the tRNA anticodon. A mutation in this gene causes a syndrome characterized by intellectual disability and strabismus. This gene shares its 5’ exon with the overlapping gene, secretory carrier membrane protein 4 (Gene ID: 113178).

Source: NCBI Gene 113179 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual disability-strabismus syndrome (Strong, GenCC)
• Clinical variants (ClinVar): 164 total — 1 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 78
• Cancer dependency (DepMap): dependent in 38.1% of screened cell lines
• MANE Select transcript: NM_138422

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25151
Approved symbol	ADAT3
Name	adenosine deaminase tRNA specific 3
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	TAD3
Ensembl gene	ENSG00000213638
Ensembl biotype	protein_coding
OMIM	615302
Entrez	113179

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000329478, ENST00000454697, ENST00000942414, ENST00000942415

RefSeq mRNA: 2 — MANE Select: NM_138422 NM_001329533, NM_138422

CCDS: CCDS12076

Canonical transcript exons

ENST00000329478 — 2 exons

Exon	Start	End
ENSE00001314256	1911890	1913447
ENSE00003490367	1905399	1905439

Expression profiles

Bgee: expression breadth ubiquitous, 128 present calls, max score 83.65.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1134 / max 19.7081, expressed in 56 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
173012	47.5812	1820
173014	0.0463	17
173015	0.0448	23
173013	0.0223	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	83.65	gold quality
lower esophagus mucosa	UBERON:0035834	82.77	gold quality
skin of abdomen	UBERON:0001416	79.38	gold quality
skin of leg	UBERON:0001511	78.91	gold quality
zone of skin	UBERON:0000014	78.79	gold quality
esophagus mucosa	UBERON:0002469	77.98	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	77.50	gold quality
metanephros cortex	UBERON:0010533	76.95	gold quality
transverse colon	UBERON:0001157	76.65	gold quality
duodenum	UBERON:0002114	76.65	gold quality
granulocyte	CL:0000094	75.26	gold quality
minor salivary gland	UBERON:0001830	75.12	gold quality
saliva-secreting gland	UBERON:0001044	74.74	gold quality
cortex of kidney	UBERON:0001225	74.65	gold quality
small intestine Peyer’s patch	UBERON:0003454	73.19	gold quality
small intestine	UBERON:0002108	72.92	gold quality
body of stomach	UBERON:0001161	72.82	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	72.62	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	72.54	gold quality
left adrenal gland	UBERON:0001234	72.53	gold quality
esophagus	UBERON:0001043	72.52	gold quality
blood	UBERON:0000178	72.51	gold quality
spleen	UBERON:0002106	72.48	gold quality
adult mammalian kidney	UBERON:0000082	72.44	gold quality
right adrenal gland	UBERON:0001233	72.35	gold quality
right adrenal gland cortex	UBERON:0035827	72.23	gold quality
left adrenal gland cortex	UBERON:0035825	72.21	gold quality
right uterine tube	UBERON:0001302	72.20	gold quality
colon	UBERON:0001155	72.09	gold quality
intestine	UBERON:0000160	71.28	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.96

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

8 targeting ADAT3, 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-345-3P	99.89	70.23	1421
HSA-MIR-4675	97.69	64.82	774
HSA-MIR-4741	97.69	64.14	883
HSA-MIR-3620-5P	97.42	63.95	792
HSA-MIR-1587	96.95	64.03	932
HSA-MIR-874-5P	96.93	63.92	1014
HSA-MIR-3657	96.33	66.29	608
HSA-MIR-147B-3P	94.55	64.40	94

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 38.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 6)

• A single missense mutation was identified in ADAT3 in all studied families on an ancient ancestral haplotype. (PMID:23620220)
• ADAT3-related intellectual disability is an important recognizable cause of intellectual disability in Arabia (PMID:26842963)
• We conclude that the ADAT3 gene mutation is responsible for ADAT3-related intellectual disability syndrome, which induces the variety clinical manifestations exhibited by our patients. (PMID:30296593)
• Study demonstrates that cells isolated from intellectual disability patients with homozygous for the ADAT3-V144M mutation contain diminished levels of wobble inosine in several tRNA isoacceptors. V144M mutation compromises the adenosine deaminase activity of ADAT2/3 complexes, increases the propensity of ADAT3 to oligomerize, and alters the subcellular localization properties of ADAT3. (PMID:31263000)
• Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder. (PMID:32763916)
• Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing. (PMID:35118659)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	adat3	ENSDARG00000005640
mus_musculus	Gm49322	ENSMUSG00000035370
mus_musculus	Adat3	ENSMUSG00000113640
rattus_norvegicus	Adat3	ENSRNOG00000063591
drosophila_melanogaster	CG10927	FBGN0034360
caenorhabditis_elegans		WBGENE00012927

Paralogs (1): ADAT2 (ENSG00000189007)

Protein

Protein identifiers

tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3 — Q96EY9 (reviewed: Q96EY9)

All UniProt accessions (2): C9JFC1, D6W601

UniProt curated annotations — full annotation on UniProt →

Function. Non-catalytic subunit of the tRNA-specific adenosine-34 deaminase complex, composed of the ADAT2 catalytic subunit and the ADAT3 regulatory subunit, which deaminates adenosine-34 (the first, also called wobble position of the anticodon) to inosine in many tRNAs. Inosine-34 allows the decoding of 3 different nucleotides at the third position of mRNA codons, as inosine is able to pair with U, C, and A. Required for binding of the ADAT2-ADAT3 complex to tRNA through its N-terminus, which rotates with respect to the catalytic domain of the complex, formed by ADAT2 and the ADAT3 C-terminal domain, to position the tRNA anticodon stem-loop correctly in the ADAT2 active site. The ADAT2-ADAT3 complex is required for radial migration of projection neurons in the developing brain cortex, and the catalytic activity of the complex is necessary for this function.

Subunit / interactions. Heterodimer with catalytic subunit ADAT2 to form the tRNA-specific adenosine-34 deaminase complex.

Subcellular location. Nucleus. Cytoplasm.

Disease relevance. Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies (NEDBGF) [MIM:615286] An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and speech delay apparent from infancy or early childhood. Most patients have dysmorphic facial features, and white matter abnormalities on brain imaging. More variable features may include teeth anomalies, distal joint contractures, spasticity, peripheral neuropathy, and behavioral problems. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The N-terminal domain adopts a fold that shares similarity with the ferredoxin-like domains of other tRNA-modifying enzymes and is required for tRNA-binding and deamination activity of the ADAT2-ADAT3 heterodimer. The domain can rotate with respect to the catalytic domain formed by ADAT2 and the ADAT3 C-terminal domain without affecting the structure of the catalytic domain. Rotation positions the tRNA anticodon stem-loop correctly in the ADAT2 active site.

Similarity. Belongs to the cytidine and deoxycytidylate deaminase family. ADAT3 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96EY9-1	1	yes
Q96EY9-2	2

RefSeq proteins (2): NP_001316462, NP_612431* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002125	CMP_dCMP_dom	Domain
IPR016193	Cytidine_deaminase-like	Homologous_superfamily

Pfam: PF00383

UniProt features (11 total): binding site 4, sequence variant 2, chain 1, domain 1, modified residue 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96EY9-F1	88.83	0.78

Functional residue map

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

Ligand- & substrate-binding residues (4): 239; 307; 310; 366

Post-translational modifications (1): 1

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6782315	tRNA modification in the nucleus and cytosol

MSigDB gene sets: 218 (showing top): GOBP_TRNA_METABOLIC_PROCESS, CYTAGCAAY_UNKNOWN, MODULE_95, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_TRNA_PROCESSING, REACTOME_METABOLISM_OF_RNA, TCCCRNNRTGC_UNKNOWN, chr19p13, MODULE_49, MODULE_163, REACTOME_TRNA_MODIFICATION_IN_THE_NUCLEUS_AND_CYTOSOL, REACTOME_TRNA_PROCESSING, ARID5B_TARGET_GENES, GREB1_TARGET_GENES, HOXB4_TARGET_GENES

GO Biological Process (1): tRNA processing (GO:0008033)

GO Molecular Function (2): catalytic activity (GO:0003824), metal ion binding (GO:0046872)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
tRNA processing	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
RNA processing	1
tRNA metabolic process	1
molecular_function	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1250 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ADAT3	ADAT2	Q7Z6V5	999
ADAT3	ADAT1	Q9BUB4	953
ADAT3	WDR4	P57081	734
ADAT3	FTSJ1	Q9UET6	716
ADAT3	ADAR	P55265	707
ADAT3	TRMT5	Q32P41	680
ADAT3	TRMT6	Q9UJA5	645
ADAT3	TRMT61A	Q96FX7	626
ADAT3	NSUN2	Q08J23	624
ADAT3	ALKBH8	Q96BT7	620
ADAT3	TRMT10A	Q8TBZ6	609
ADAT3	KARS1	Q15046	605
ADAT3	ADARB2	Q9NS39	604
ADAT3	PUS3	Q9BZE2	597
ADAT3	AARS1	P49588	594

IntAct

23 interactions, top by confidence:

A	B	Type	Score
ANKRD44	PPP6C	psi-mi:“MI:0914”(association)	0.790
CDA	ADAT3	psi-mi:“MI:0915”(physical association)	0.560
FBLIM1	ADAT3	psi-mi:“MI:0915”(physical association)	0.560
SORBS3	ADAT3	psi-mi:“MI:0915”(physical association)	0.560
TRIP13	INTS11	psi-mi:“MI:0914”(association)	0.550
SAP30	TNRC18	psi-mi:“MI:0914”(association)	0.530
ADAT2	ADAT3	psi-mi:“MI:0915”(physical association)	0.500
ADAT2	ADAT3	psi-mi:“MI:0915”(physical association)	0.400
THRB	ADAT3	psi-mi:“MI:0915”(physical association)	0.370
TRIP13	METTL8	psi-mi:“MI:0914”(association)	0.350
ADAT3	ABLIM1	psi-mi:“MI:0914”(association)	0.350
ARMC12	PTPRG	psi-mi:“MI:0914”(association)	0.350
TOM1	VPS37C	psi-mi:“MI:0914”(association)	0.350
TLDC2	ATP6V1A	psi-mi:“MI:0914”(association)	0.350
HMGN1	IPO7	psi-mi:“MI:0914”(association)	0.350
ADAT3	CDA	psi-mi:“MI:0915”(physical association)	0.000
ADAT3	SORBS3	psi-mi:“MI:0915”(physical association)	0.000
ADAT3	FBLIM1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (29): ADAT3 (Affinity Capture-MS), ADAT3 (Affinity Capture-MS), ADAT3 (Affinity Capture-MS), ADAT3 (Two-hybrid), ADAT3 (Two-hybrid), ADAT3 (Two-hybrid), ADAT3 (Affinity Capture-RNA), ADAT3 (Affinity Capture-MS), SELO (Affinity Capture-MS), ABLIM1 (Affinity Capture-MS), ADAT3 (Affinity Capture-MS), POTEI (Affinity Capture-MS), MED29 (Affinity Capture-MS), TBC1D24 (Affinity Capture-MS), ADAT3 (Affinity Capture-MS)

ESM2 similar proteins: A1A4L8, A2BDX3, A4RPM5, A5GFZ6, A6NK58, B4FAT0, B4NXF7, B6TNK6, O19179, O43323, O95396, O95571, P19971, P55203, P85971, Q02846, Q05922, Q08DH8, Q0VFH3, Q14BV6, Q17CA7, Q1WNP0, Q3KQV9, Q3TW96, Q3UQ84, Q561R2, Q58E95, Q5PQQ1, Q5ZKI2, Q61488, Q66JK4, Q6PAT0, Q7PY41, Q86U10, Q8AWD2, Q8NFV4, Q8VBZ0, Q8VDG5, Q923K4, Q96EY9

Diamond homologs: A9CK16, C1D1Q9, F4KH86, O34598, O66534, O67050, O94642, P0DA20, P0DA21, P21335, P44931, P57343, P68397, P68398, P68999, Q1RGK7, Q4UJW9, Q561R2, Q5E9J7, Q5SI38, Q5XE14, Q68Y02, Q6IDB6, Q6P6J0, Q6PAT0, Q72IF6, Q7CQ08, Q7Z6V5, Q89AM8, Q8FF24, Q8JFW4, Q8K9R4, Q8P2R7, Q8XA44, Q8XGY4, Q92G39, Q94BU8, Q96EY9, Q99W51, Q9RV23

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	3
Uncertain significance	127
Likely benign	18
Benign	6

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
549839	NM_138422.4(ADAT3):c.99_106dup (p.Glu36fs)	Pathogenic
1331555	NM_138422.4(ADAT3):c.24_37del (p.Pro10fs)	Likely pathogenic
3362399	NM_138422.4(ADAT3):c.319G>A (p.Glu107Lys)	Likely pathogenic
3362604	NM_138422.4(ADAT3):c.159_160del (p.Asp55fs)	Likely pathogenic

SpliceAI

388 predictions. Top by Δscore:

Variant	Effect	Δscore
19:1905437:CAGG:C	donor_loss	1.0000
19:1905438:AGG:A	donor_loss	1.0000
19:1905438:AGGT:A	donor_loss	1.0000
19:1905440:G:GA	donor_loss	1.0000
19:1905440:G:GG	donor_gain	0.9900
19:1912079:A:AG	acceptor_gain	0.9800
19:1912079:AGTC:A	acceptor_gain	0.9800
19:1912079:AGTCG:A	acceptor_gain	0.9800
19:1912080:G:GG	acceptor_gain	0.9800
19:1912080:GTC:G	acceptor_gain	0.9800
19:1912080:GTCG:G	acceptor_gain	0.9800
19:1912080:GTCGG:G	acceptor_gain	0.9800
19:1905435:CTCAG:C	donor_gain	0.9700
19:1905438:AG:A	donor_gain	0.9700
19:1905439:GG:G	donor_gain	0.9700
19:1912279:G:GT	donor_gain	0.9700
19:1913259:G:T	donor_gain	0.9600
19:1905436:TCAG:T	donor_gain	0.9500
19:1905437:CAG:C	donor_gain	0.9500
19:1912075:CCACA:C	acceptor_loss	0.9400
19:1912076:CACA:C	acceptor_loss	0.9400
19:1912077:ACAG:A	acceptor_loss	0.9400
19:1912078:CA:C	acceptor_loss	0.9400
19:1912079:AG:A	acceptor_loss	0.9400
19:1912080:G:A	acceptor_loss	0.9400
19:1912080:GT:G	acceptor_gain	0.9400
19:1913148:G:GG	donor_gain	0.9400
19:1912069:T:A	acceptor_loss	0.9200
19:1913280:G:GT	donor_gain	0.9100
19:1913329:C:A	donor_gain	0.9100

AlphaMissense

2328 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000061983 (19:1905920 A>G), RS1000485286 (19:1912694 T>C,G), RS1000547425 (19:1911345 G>T), RS1000664280 (19:1905257 G>A,T), RS1000665052 (19:1911552 G>A,T), RS1001178243 (19:1907204 C>T), RS1001439717 (19:1912085 C>A,T), RS1001682483 (19:1908017 C>G,T), RS1001894702 (19:1907512 G>A), RS1002285927 (19:1911728 A>G,T), RS1002290216 (19:1907281 C>G,T), RS1002673556 (19:1909528 T>A), RS1002729302 (19:1907161 T>G), RS1002952479 (19:1913614 C>T), RS1003172253 (19:1910211 G>C,T)

Disease associations

OMIM: gene MIM:615302 | disease phenotypes: MIM:615286

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual disability-strabismus syndrome	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
intellectual disability-strabismus syndrome	Moderate	AR

Mondo (3): intellectual disability-strabismus syndrome (MONDO:0014119), microcephaly (MONDO:0001149), intellectual disability (MONDO:0001071)

Orphanet (2): Intellectual disability-strabismus syndrome (Orphanet:363528), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

78 total (30 of 78 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000054	Micropenis
HP:0000154	Wide mouth
HP:0000164	Abnormality of the dentition
HP:0000218	High palate
HP:0000252	Microcephaly
HP:0000276	Long face
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000324	Facial asymmetry
HP:0000340	Sloping forehead
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000400	Macrotia
HP:0000403	Recurrent otitis media
HP:0000418	Narrow nasal ridge
HP:0000448	Prominent nose
HP:0000470	Short neck
HP:0000486	Strabismus
HP:0000506	Telecanthus
HP:0000565	Esotropia
HP:0000582	Upslanted palpebral fissure
HP:0000664	Synophrys
HP:0000718	Aggressive behavior
HP:0000750	Delayed speech and language development
HP:0000752	Hyperactivity

GWAS associations

0 associations (top):

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
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Smoke	increases expression, decreases expression, increases abundance	2
Tobacco Smoke Pollution	increases expression	2
aristolochic acid I	increases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	decreases expression	1
licochalcone B	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Acetaminophen	increases expression	1
Air Pollutants	increases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Methotrexate	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Rotenone	decreases expression	1
Toluene	decreases expression, increases methylation	1
Urethane	increases expression	1
Valproic Acid	increases methylation	1
Sodium Selenite	increases expression	1
Copper Sulfate	increases expression	1
Particulate Matter	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B7E1	FMUPDCi001-A	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

211 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)
NCT05518188	PHASE1/PHASE2	RECRUITING	Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
NCT00001639	Not specified	COMPLETED	Evaluation of Patients With Unresolved Chromosome Abnormalities
NCT01151462	Not specified	WITHDRAWN	Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes.
NCT01565005	Not specified	COMPLETED	Microcephaly Genetic Deficiency in Neural Progenitors
NCT02510170	Not specified	COMPLETED	Fetal and Maternal Head Circumference During Pregnancy in Israeli Population
NCT02741882	Not specified	COMPLETED	Zika and Microcephaly: Case-control Study
NCT02943304	Not specified	COMPLETED	Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero
NCT03255369	Not specified	UNKNOWN	Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF)
NCT03325946	Not specified	RECRUITING	The FBRI VTC Neuromotor Research Clinic
NCT03330600	Not specified	COMPLETED	Efficacy of Aquatic Physiotherapy in Children With Microcephaly by Zika Virus Congenital Syndrome
NCT03548779	Not specified	COMPLETED	North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
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