RIMBP3

Summary

RIMBP3 (RIMS binding protein 3, HGNC:29344) is a protein-coding gene on chromosome 22q11.21, encoding RIMS-binding protein 3A (Q9UFD9). Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development.

Predicted to enable benzodiazepine receptor binding activity. Predicted to be involved in fertilization and spermatid development. Predicted to be located in manchette. Predicted to be active in nucleus.

Source: NCBI Gene 85376 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 208 total — 1 pathogenic
• MANE Select transcript: NM_015672

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29344
Approved symbol	RIMBP3
Name	RIMS binding protein 3
Location	22q11.21
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1666, RIMBP3.1, RIMBP3A
Ensembl gene	ENSG00000275793
Ensembl biotype	protein_coding
OMIM	612699
Entrez	85376

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000619918

RefSeq mRNA: 1 — MANE Select: NM_015672 NM_015672

CCDS: CCDS46665

Canonical transcript exons

ENST00000619918 — 1 exons

Exon	Start	End
ENSE00003738661	18605815	18611919

Expression profiles

Bgee: expression breadth broad, 68 present calls, max score 84.79.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	84.79	gold quality
testis	UBERON:0000473	84.72	gold quality
right testis	UBERON:0004534	83.89	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.69	gold quality
stromal cell of endometrium	CL:0002255	62.97	gold quality
granulocyte	CL:0000094	62.70	gold quality
lymph node	UBERON:0000029	54.82	gold quality
bone marrow cell	CL:0002092	51.90	gold quality
islet of Langerhans	UBERON:0000006	51.61	gold quality
leukocyte	CL:0000738	50.95	gold quality
blood	UBERON:0000178	50.29	gold quality
monocyte	CL:0000576	49.42	gold quality
prefrontal cortex	UBERON:0000451	49.02	gold quality
cortical plate	UBERON:0005343	48.99	gold quality
placenta	UBERON:0001987	48.79	gold quality
spleen	UBERON:0002106	48.43	gold quality
descending thoracic aorta	UBERON:0002345	48.17	gold quality
tonsil	UBERON:0002372	45.85	gold quality
bone marrow	UBERON:0002371	45.18	gold quality
gall bladder	UBERON:0002110	44.72	silver quality
vermiform appendix	UBERON:0001154	44.71	gold quality
frontal cortex	UBERON:0001870	44.67	gold quality
right coronary artery	UBERON:0001625	44.58	gold quality
hypothalamus	UBERON:0001898	43.89	gold quality
thoracic aorta	UBERON:0001515	43.53	gold quality
ventricular zone	UBERON:0003053	43.44	gold quality
ascending aorta	UBERON:0001496	42.91	gold quality
pancreas	UBERON:0001264	42.78	gold quality
nucleus accumbens	UBERON:0001882	42.55	gold quality
duodenum	UBERON:0002114	42.33	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-9067	yes	12.31
E-ANND-3	no	1.46

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting RIMBP3, 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-3617-3P	99.98	67.86	918
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4722-3P	99.35	65.22	1099
HSA-MIR-4279	99.19	66.70	2437
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-4520-3P	98.75	66.55	963
HSA-MIR-7851-3P	98.72	64.88	980
HSA-MIR-4710	98.61	65.96	1048
HSA-MIR-138-5P	98.43	70.49	1292
HSA-MIR-4518	98.12	66.82	1030
HSA-MIR-1266-5P	97.71	66.92	1052
HSA-MIR-5089-3P	97.50	67.82	758
HSA-MIR-526B-5P	97.41	67.99	1074
HSA-MIR-3187-3P	97.38	65.80	904
HSA-MIR-342-5P	97.25	64.10	817
HSA-MIR-4701-5P	96.45	68.41	1121
HSA-MIR-588	96.45	68.36	1127
HSA-MIR-524-3P	95.15	66.16	109
HSA-MIR-525-3P	95.15	65.95	109
HSA-MIR-3672	94.46	65.67	646
HSA-MIR-6864-3P	94.46	65.97	625

Literature-anchored findings (GeneRIF, showing 1)

• Homeodomain-interacting protein kinase HIPK4 regulates phosphorylation of manchette protein RIMBP3 during spermiogenesis. (PMID:35931115)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000103792
mus_musculus	Rimbp3	ENSMUSG00000071636
rattus_norvegicus	Rimbp3	ENSRNOG00000030452
drosophila_melanogaster	Rbp	FBGN0262483
caenorhabditis_elegans		WBGENE00006513

Paralogs (4): TSPOAP1 (ENSG00000005379), RIMBP2 (ENSG00000060709), RIMBP3C (ENSG00000183246), RIMBP3B (ENSG00000274600)

Protein

Protein identifiers

RIMS-binding protein 3A — Q9UFD9 (reviewed: Q9UFD9)

Alternative names: RIMS-binding protein 3.1

All UniProt accessions (1): Q9UFD9

UniProt curated annotations — full annotation on UniProt →

Function. Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development.

Subunit / interactions. Interacts with LRGUK (via guanylate kinase-like domain). Interacts (via C-terminus) with HOOK1 (via coiled-coil region).

Subcellular location. Cytoplasm. Cytoskeleton.

Similarity. Belongs to the RIMBP family.

RefSeq proteins (1): NP_056487* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR003961	FN3_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR040325	RIMBP1/2/3	Family
IPR057884	FN3_RIM-BP1/2/3	Domain
IPR057950	RIMB1/RIM3A-C-like_N	Domain

Pfam: PF07653, PF25523, PF25566

UniProt features (38 total): sequence conflict 9, region of interest 6, strand 6, domain 5, compositionally biased region 5, coiled-coil region 3, turn 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2EGE	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UFD9-F1	58.79	0.18

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 42 (showing top): BENPORATH_ES_WITH_H3K27ME3, GOBP_MALE_GAMETE_GENERATION, GOBP_CELL_CELL_SIGNALING, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, GOBP_SYNAPTIC_SIGNALING, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_FERTILIZATION, GOMF_SIGNALING_RECEPTOR_BINDING, GOBP_NEUROMUSCULAR_SYNAPTIC_TRANSMISSION, KOYAMA_SEMA3B_TARGETS_DN, CERIBELLI_GENES_INACTIVE_AND_BOUND_BY_NFY, FORTSCHEGGER_PHF8_TARGETS_DN, GOCC_MANCHETTE, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY

GO Biological Process (4): spermatid development (GO:0007286), fertilization (GO:0009566), spermatogenesis (GO:0007283), cell differentiation (GO:0030154)

GO Molecular Function (2): benzodiazepine receptor binding (GO:0030156), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), cytoskeleton (GO:0005856), manchette (GO:0002177), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
germ cell development	1
spermatid differentiation	1
sexual reproduction	1
reproductive process	1
developmental process involved in reproduction	1
male gamete generation	1
cellular developmental process	1
signaling receptor binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
microtubule cytoskeleton	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

764 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RIMBP3	HOOK1	Q9UJC3	870
RIMBP3	KIF3B	O15066	743
RIMBP3	HOOK2	Q96ED9	687
RIMBP3	RIMS2	Q9UQ26	620
RIMBP3	TMEM191B	P0C7N4	583
RIMBP3	MORN3	Q6PF18	575
RIMBP3	FN1	P02751	566
RIMBP3	C20orf173	Q96LM9	519
RIMBP3	CCDC54	Q8NEL0	513
RIMBP3	SRC	P12931	494
RIMBP3	RIMS1	Q86UR5	481
RIMBP3	MVP	Q14764	476
RIMBP3	C22orf23	Q9BZE7	471
RIMBP3	LRGUK	Q96M69	454
RIMBP3	TMCO5A	Q8N6Q1	450

IntAct

111 interactions, top by confidence:

A	B	Type	Score
POLR1C	RIMBP3	psi-mi:“MI:0915”(physical association)	0.720
RIMBP3	POLR1C	psi-mi:“MI:0915”(physical association)	0.720
RIMBP3	PRKAB2	psi-mi:“MI:0915”(physical association)	0.670
RIMBP3	NOXA1	psi-mi:“MI:0915”(physical association)	0.670
PRKAB2	RIMBP3	psi-mi:“MI:0915”(physical association)	0.670
NOXA1	RIMBP3	psi-mi:“MI:0915”(physical association)	0.670
RIMBP3	TRAF3IP2	psi-mi:“MI:0915”(physical association)	0.560
AQP1	RIMBP3	psi-mi:“MI:0915”(physical association)	0.560
RIMBP3	CREB5	psi-mi:“MI:0915”(physical association)	0.560
RIMBP3	TLE5	psi-mi:“MI:0915”(physical association)	0.560
PRKAA1	RIMBP3	psi-mi:“MI:0915”(physical association)	0.560
DTX2	RIMBP3	psi-mi:“MI:0915”(physical association)	0.560
RIMBP3	CTBP2	psi-mi:“MI:0915”(physical association)	0.560
CATSPER1	RIMBP3	psi-mi:“MI:0915”(physical association)	0.560
ZNF488	RIMBP3	psi-mi:“MI:0915”(physical association)	0.560
DGCR6L	RIMBP3	psi-mi:“MI:0915”(physical association)	0.560
RIMBP3	FANCL	psi-mi:“MI:0915”(physical association)	0.560
RIMBP3	PPIL1	psi-mi:“MI:0915”(physical association)	0.560
TRAF3IP2	RIMBP3	psi-mi:“MI:0915”(physical association)	0.560
RIMBP3	AQP1	psi-mi:“MI:0915”(physical association)	0.560
CREB5	RIMBP3	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (26): RIMBP3 (Two-hybrid), RIMBP3 (Two-hybrid), RIMBP3 (Two-hybrid), RIMBP3 (Two-hybrid), RIMBP3 (Two-hybrid), RIMBP3 (Two-hybrid), RIMBP3 (Two-hybrid), RIMBP3 (Two-hybrid), RIMBP3 (Two-hybrid), RIMBP3 (Two-hybrid), RIMBP3 (Two-hybrid), RIMBP3 (Two-hybrid), DTX2 (Two-hybrid), CATSPER1 (Two-hybrid), ZNF488 (Two-hybrid)

ESM2 similar proteins: A0A140LIT1, A0A1B0GVG4, A0JNH6, A1A5D9, A6NC98, A6NGB0, A6NJZ7, A6NNM3, F6XLV1, O15049, O54887, P0C7N4, P58660, P60531, Q0D2H9, Q0P5D1, Q2KJ21, Q2TAC2, Q3LUD3, Q3T1I3, Q3TMW1, Q3V0F0, Q4QRL3, Q5JTB6, Q5RD60, Q66HR5, Q6NSJ2, Q6PHN1, Q6QZQ4, Q80VM7, Q8BP01, Q8C7U1, Q8CB62, Q8CGU1, Q8CHW5, Q8K2I2, Q8N137, Q8N283, Q8N6Y0, Q8R370

Diamond homologs: A6NJZ7, A6NNM3, O95153, Q3V0F0, Q80U40, Q9JIR1, Q9UFD9, O15034, Q7TNF8, Q8QFX1, Q9JIR0, E2RP94, M0R4F8, Q6XJU9, Q6XZF7, A0A0K3AV08, A1CEK6, A1DFN5, A2QW93, Q0CJU8, Q15811, Q4WHP5, Q557J6, Q5BBL4, Q96B97

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
RIMBP3	“down-regulates activity”	RIMS1	binding
RIMBP3	“down-regulates activity”	RIMS2	binding
RIMBP3	“down-regulates activity”	RIMS3	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	179
Likely benign	28
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1077190	Single allele	Pathogenic

SpliceAI

24 predictions. Top by Δscore:

Variant	Effect	Δscore
22:18605993:A:C	acceptor_gain	0.6000
22:18611872:GCATA:G	donor_loss	0.4200
22:18611873:CATA:C	donor_loss	0.4200
22:18611874:ATACC:A	donor_loss	0.4200
22:18611875:TACCT:T	donor_loss	0.4200
22:18611876:ACCT:A	donor_loss	0.4200
22:18611877:CC:C	donor_loss	0.4200
22:18605998:G:GC	acceptor_gain	0.4100
22:18611878:C:A	donor_loss	0.3900
22:18605988:C:A	acceptor_gain	0.3600
22:18605990:C:A	acceptor_gain	0.3600
22:18611871:GGCAT:G	donor_loss	0.3500
22:18606078:TCG:T	acceptor_gain	0.3400
22:18606079:CGC:C	acceptor_gain	0.3400
22:18606001:G:C	acceptor_gain	0.3200
22:18611879:T:A	donor_loss	0.3100
22:18605977:T:A	acceptor_gain	0.3000
22:18605989:G:A	acceptor_gain	0.2700
22:18611874:A:T	donor_gain	0.2500
22:18606001:G:GC	acceptor_gain	0.2400
22:18605979:C:CC	acceptor_gain	0.2200
22:18605992:C:A	acceptor_gain	0.2200
22:18606193:T:TG	acceptor_gain	0.2100
22:18611870:GGGC:G	donor_loss	0.2000

AlphaMissense

10547 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:18608116:A:G	W1107R	0.988
22:18608116:A:T	W1107R	0.988
22:18608056:C:G	A1127P	0.984
22:18608114:C:A	W1107C	0.975
22:18608114:C:G	W1107C	0.975
22:18608201:G:C	F1078L	0.975
22:18608201:G:T	F1078L	0.975
22:18608203:A:G	F1078L	0.975
22:18611031:A:G	L135P	0.975
22:18608807:G:C	F876L	0.974
22:18608807:G:T	F876L	0.974
22:18608809:A:G	F876L	0.974
22:18611025:C:G	R137P	0.973
22:18611041:C:G	A132P	0.971
22:18611019:A:G	L139P	0.969
22:18611118:A:G	L106P	0.968
22:18608059:A:G	Y1126H	0.963
22:18608398:A:G	W1013R	0.963
22:18608398:A:T	W1013R	0.963
22:18608121:A:T	V1105D	0.961
22:18610838:G:C	F199L	0.959
22:18610838:G:T	F199L	0.959
22:18610840:A:G	F199L	0.959
22:18608052:A:T	V1128E	0.954
22:18608059:A:C	Y1126D	0.952
22:18608202:A:G	F1078S	0.951
22:18611105:C:A	K110N	0.951
22:18611105:C:G	K110N	0.951
22:18607940:T:A	R1165S	0.950
22:18607940:T:G	R1165S	0.950

dbSNP variants (sampled 300 via entrez): RS1001858495 (22:18606912 C>G,T), RS1003534567 (22:18612228 G>A,T), RS1003588524 (22:18610018 A>G,T), RS1006809781 (22:18609196 C>T), RS1007168093 (22:18609820 G>A), RS1010665331 (22:18607808 G>C), RS1011049861 (22:18607044 T>A,C), RS1012310369 (22:18612900 C>T), RS1017302353 (22:18609253 G>A), RS1020801560 (22:18607051 CAG>C), RS1021084271 (22:18607847 G>A,C), RS1022892017 (22:18613128 C>T), RS1026252754 (22:18609433 G>C), RS1026287169 (22:18609977 G>A), RS1029489532 (22:18608114 C>G,T)

Disease associations

OMIM: gene MIM:612699 | disease phenotypes: MIM:188400

GenCC curated gene-disease

Mondo (1): DiGeorge syndrome (MONDO:0008564)

Orphanet (1): 22q11.2 deletion syndrome (Orphanet:567)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001725_108	Inflammatory bowel disease	1.000000e-16

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D004062	DiGeorge Syndrome	C05.660.207.103.500; C14.240.400.021.500; C14.280.400.044.500; C15.604.451.249.500; C16.131.077.019.500; C16.131.240.400.021.500; C16.131.260.019.500; C16.131.482.249.500; C16.131.621.207.103.500; C16.320.180.019.500; C19.642.482.500.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
afuresertib	increases expression	1
bisphenol A	affects cotreatment, increases expression	1
titanium dioxide	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	increases expression	1
perfluorooctanoic acid	increases expression	1
tobacco tar	decreases expression, decreases reaction	1
diallyl disulfide	decreases expression, decreases reaction	1
ferrous chloride	decreases expression	1
coumarin	increases phosphorylation	1
allyl sulfide	decreases expression, decreases reaction	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
abrine	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression, affects cotreatment	1
Indomethacin	increases expression, affects cotreatment	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Valproic Acid	increases methylation	1
1-Methyl-3-isobutylxanthine	increases expression, affects cotreatment	1
Copper Sulfate	decreases expression	1
Magnetite Nanoparticles	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00395538	PHASE3	TERMINATED	Effects of PTH Replacement on Bone in Hypoparathyroidism
NCT00576407	PHASE2	COMPLETED	Thymus Transplantation in DiGeorge Syndrome #668
NCT00576836	PHASE2	COMPLETED	Thymus Transplantation Dose in DiGeorge #932
NCT01821781	PHASE2	ACTIVE_NOT_RECRUITING	Immune Disorder HSCT Protocol
NCT05149898	PHASE2	COMPLETED	Open-Label Study of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With 22q11.2 Deletion Syndrome (INSPIRE)
NCT07284641	PHASE2	RECRUITING	Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
NCT00566488	PHASE1	COMPLETED	Parathyroid and Thymus Transplantation in DiGeorge #931
NCT00579709	PHASE1	COMPLETED	Thymus Transplantation With Immunosuppression
NCT00849888	PHASE1	TERMINATED	Serum-Free Thymus Transplantation in DiGeorge Anomaly
NCT02895906	PHASE1	COMPLETED	Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions
NCT00579527	PHASE1/PHASE2	COMPLETED	Phase I/II Thymus Transplantation With Immunosuppression #950
NCT00004351	Not specified	COMPLETED	Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
NCT00005102	Not specified	UNKNOWN	Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
NCT00105274	Not specified	COMPLETED	Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study
NCT00278005	Not specified	TERMINATED	Infection in DiGeorge Following CHD Surgery
NCT00556530	Not specified	RECRUITING	Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
NCT00916955	Not specified	COMPLETED	Genetic Modifiers for 22q11.2 Syndrome
NCT01220531	Not specified	COMPLETED	Thymus Transplantation Safety-Efficacy
NCT01781923	Not specified	COMPLETED	Cognitive Remediation in 22q11DS
NCT02381457	Not specified	COMPLETED	SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
NCT02430584	Not specified	UNKNOWN	Whole Blood Specimen Collection From Pregnant Subjects
NCT02460328	Not specified	COMPLETED	Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
NCT02787486	Not specified	COMPLETED	Expanded Noninvasive Genomic Medical Assessment: The Enigma Study
NCT03284060	Not specified	TERMINATED	Social Cognition Training and Cognitive Remediation
NCT04141540	Not specified	COMPLETED	Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11
NCT04373226	Not specified	TERMINATED	Arithmetic Abilities in Children With 22q11.2DS
NCT04639388	Not specified	RECRUITING	Understanding of Psychotic Disorders in Children With 22q11.2DS
NCT04639960	Not specified	TERMINATED	Neuroprotective Effects of Risperdal on Brain and Cognition in 22q11 Deletion Syndrome
NCT04647500	Not specified	COMPLETED	Effects of Methylphenidate on Brain and Cognition in 22q11 Deletion Syndrome
NCT05924347	Not specified	RECRUITING	Early Scoliotic Changes in Children at Increased Risk for Scoliosis Development
NCT07493096	Not specified	RECRUITING	Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders