GSC2

Summary

GSC2 (goosecoid homeobox 2, HGNC:4613) is a protein-coding gene on chromosome 22q11.21, encoding Homeobox protein goosecoid-2 (O15499). May have a role in development.

Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development.

Source: NCBI Gene 2928 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 59 total — 4 pathogenic
• MANE Select transcript: NM_005315

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4613
Approved symbol	GSC2
Name	goosecoid homeobox 2
Location	22q11.21
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000063515
Ensembl biotype	protein_coding
OMIM	601845
Entrez	2928

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000086933

RefSeq mRNA: 1 — MANE Select: NM_005315 NM_005315

CCDS: CCDS13757

Canonical transcript exons

ENST00000086933 — 3 exons

Exon	Start	End
ENSE00000331106	19146993	19149095
ENSE00000650651	19149663	19149916
ENSE00000650652	19150025	19150292

Expression profiles

Bgee: expression breadth broad, 11 present calls, max score 85.43.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.43	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.68	gold quality
testis	UBERON:0000473	61.73	gold quality
right testis	UBERON:0004534	60.96	gold quality
left testis	UBERON:0004533	60.23	gold quality
cortical plate	UBERON:0005343	44.05	silver quality
colonic epithelium	UBERON:0000397	41.17	gold quality
sural nerve	UBERON:0015488	40.94	gold quality
bone marrow cell	CL:0002092	39.99	gold quality
lower esophagus mucosa	UBERON:0035834	37.17	gold quality
prefrontal cortex	UBERON:0000451	37.05	gold quality
bone marrow	UBERON:0002371	36.95	gold quality
apex of heart	UBERON:0002098	36.51	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
granulocyte	CL:0000094	36.03	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	34.93	gold quality
skin of leg	UBERON:0001511	34.91	silver quality
zone of skin	UBERON:0000014	34.40	silver quality
skin of abdomen	UBERON:0001416	33.44	silver quality
ectocervix	UBERON:0012249	33.31	gold quality
frontal cortex	UBERON:0001870	32.94	gold quality
primary visual cortex	UBERON:0002436	32.83	gold quality
uterine cervix	UBERON:0000002	32.68	gold quality
superior frontal gyrus	UBERON:0002661	32.35	gold quality
muscle tissue	UBERON:0002385	32.20	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
leukocyte	CL:0000738	31.90	gold quality
nucleus accumbens	UBERON:0001882	31.27	gold quality
monocyte	CL:0000576	30.52	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.20

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

2 targets.

Target	Regulation
GSC2
TH

JASPAR motifs

Motif	Name	Family
MA0891.1	GSC2	Paired-related HD factors
MA0891.2	GSC2	Paired-related HD factors

JASPAR matrix evidence (PMIDs): PMID:9441739

Upstream regulators (CollecTRI, top): GSC2, GSC

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gsc2	ENSMUSG00000022738
rattus_norvegicus	Gsc2	ENSRNOG00000000282

Paralogs (50): ARX (ENSG00000004848), PAX6 (ENSG00000007372), PAX7 (ENSG00000009709), ALX4 (ENSG00000052850), PITX1 (ENSG00000069011), PAX2 (ENSG00000075891), RHOXF1 (ENSG00000101883), CRX (ENSG00000105392), EVX1 (ENSG00000106038), PAX4 (ENSG00000106331), NOBOX (ENSG00000106410), PITX3 (ENSG00000107859), PHOX2B (ENSG00000109132), OTX1 (ENSG00000115507), PRRX1 (ENSG00000116132), VSX2 (ENSG00000119614), ESX1 (ENSG00000123576), PAX8 (ENSG00000125618), PAX1 (ENSG00000125813), RHOXF2 (ENSG00000131721), GSC (ENSG00000133937), RAX (ENSG00000134438), PAX3 (ENSG00000135903), ALX3 (ENSG00000156150), HESX1 (ENSG00000163666), PITX2 (ENSG00000164093), UNCX (ENSG00000164853), PHOX2A (ENSG00000165462), OTX2 (ENSG00000165588), DRGX (ENSG00000165606), PRRX2 (ENSG00000167157), SHOX2 (ENSG00000168779), OTP (ENSG00000171540), RAX2 (ENSG00000173976), EVX2 (ENSG00000174279), PROP1 (ENSG00000175325), ISX (ENSG00000175329), ALX1 (ENSG00000180318), MIXL1 (ENSG00000185155), SHOX (ENSG00000185960)

Protein

Protein identifiers

Homeobox protein goosecoid-2 — O15499 (reviewed: O15499)

Alternative names: Homeobox protein goosecoid-like

All UniProt accessions (1): O15499

UniProt curated annotations — full annotation on UniProt →

Function. May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequence TAATCC.

Subcellular location. Nucleus.

Tissue specificity. Detected in adult testis and pituitary, and in 9-10 week fetal tissue (thorax). Probably expressed in other tissues at low levels.

Similarity. Belongs to the paired homeobox family. Bicoid subfamily.

RefSeq proteins (1): NP_005306* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017970	Homeobox_CS	Conserved_site
IPR051440	Goosecoid-like_HB	Family

Pfam: PF00046

UniProt features (5 total): region of interest 2, chain 1, DNA-binding region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15499-F1	70.08	0.30

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 45 (showing top): BENPORATH_ES_WITH_H3K27ME3, HU_ANGIOGENESIS_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, P53_DN.V2_UP, PRC2_EED_DN.V1_UP, GSE13522_WT_VS_IFNG_KO_SKIN_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, GSE14386_UNTREATED_VS_IFNA_TREATED_ACT_PBMC_MS_PATIENT_UP, GSE10325_BCELL_VS_LUPUS_BCELL_UP, GSE13306_RA_VS_UNTREATED_TREG_DN, GSE14769_20MIN_VS_360MIN_LPS_BMDM_DN, GSE14769_40MIN_VS_360MIN_LPS_BMDM_DN, GSE15750_WT_VS_TRAF6KO_DAY6_EFF_CD8_TCELL_UP, WP_22Q112_COPY_NUMBER_VARIATION_SYNDROME, MYOCD_TARGET_GENES

GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), anatomical structure morphogenesis (GO:0009653), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), sequence-specific DNA binding (GO:0043565), sequence-specific double-stranded DNA binding (GO:1990837), protein binding (GO:0005515)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
transcription by RNA polymerase II	1
developmental process	1
anatomical structure development	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
DNA binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

348 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GSC2	GNB1L	Q9BYB4	803
GSC2	SLC25A1	P53007	780
GSC2	TBX1	O43435	721
GSC2	PRODH	O43272	714
GSC2	PRODH	O43272	693
GSC2	SEPTIN5	Q99719	674
GSC2	GP1BB	P13224	671
GSC2	RANBP1	P43487	640
GSC2	DGCR2	P98153	630
GSC2	CLTCL1	P53675	626
GSC2	DGCR6L	Q9BY27	596
GSC2	CLDN5	O00501	562
GSC2	COMT	P21964	562
GSC2	ZNF74	Q16587	560
GSC2	DGCR6	Q14129	557

IntAct

173 interactions, top by confidence:

A	B	Type	Score
GSC2	GTF2H5	psi-mi:“MI:0915”(physical association)	0.560
GSC2	ASPH	psi-mi:“MI:0915”(physical association)	0.560
SDCBP	GSC2	psi-mi:“MI:0915”(physical association)	0.560
GSC2	GUCY1A2	psi-mi:“MI:0915”(physical association)	0.560
GSC2	BNIP2	psi-mi:“MI:0915”(physical association)	0.560
GSC2	COL8A1	psi-mi:“MI:0915”(physical association)	0.560
GSC2		psi-mi:“MI:0915”(physical association)	0.560
GSC2	CIAO2A	psi-mi:“MI:0915”(physical association)	0.560
GSC2	MAPK9	psi-mi:“MI:0915”(physical association)	0.560
GSC2	MRPS23	psi-mi:“MI:0915”(physical association)	0.560
GSC2	ANXA5	psi-mi:“MI:0915”(physical association)	0.560
GSC2	EGLN3	psi-mi:“MI:0915”(physical association)	0.560
GSC2	GALNT11	psi-mi:“MI:0915”(physical association)	0.560
GSC2	PDE4C	psi-mi:“MI:0915”(physical association)	0.560
GSC2	GUCA1A	psi-mi:“MI:0915”(physical association)	0.560
GSC2	PRKAB2	psi-mi:“MI:0915”(physical association)	0.560
GSC2	KLHL38	psi-mi:“MI:0915”(physical association)	0.560
GSC2	GCM2	psi-mi:“MI:0915”(physical association)	0.560
GSC2	FKBP6	psi-mi:“MI:0915”(physical association)	0.560
GSC2	ETFDH	psi-mi:“MI:0915”(physical association)	0.560
TNPO2	GSC2	psi-mi:“MI:0915”(physical association)	0.560
GSC2	CRCP	psi-mi:“MI:0915”(physical association)	0.560
GSC2	CSNK2A1	psi-mi:“MI:0915”(physical association)	0.560
GSC2	CDKN2D	psi-mi:“MI:0915”(physical association)	0.560
GSC2	MORF4L1	psi-mi:“MI:0915”(physical association)	0.560
GSC2	PTER	psi-mi:“MI:0915”(physical association)	0.560
GSC2	KRTAP5-9	psi-mi:“MI:0915”(physical association)	0.560
FAM221B	GSC2	psi-mi:“MI:0915”(physical association)	0.560
GSC2	CALR	psi-mi:“MI:0915”(physical association)	0.560
GSC2	LTO1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (61): GSC2 (Two-hybrid), GSC2 (Two-hybrid), TIPIN (Two-hybrid), FKBP6 (Two-hybrid), MID2 (Two-hybrid), PACSIN2 (Two-hybrid), CSNK2A1 (Two-hybrid), DYRK1B (Two-hybrid), TNPO2 (Two-hybrid), PDE4C (Two-hybrid), UBE2R2 (Two-hybrid), MAD2L2 (Two-hybrid), YPEL5 (Two-hybrid), GTSF1L (Two-hybrid), GCM2 (Two-hybrid)

ESM2 similar proteins: A0A0U1RQS6, A0A286YF58, A0A494C0N9, A0A494C0Y3, A0A7I2V3R4, A2AEV7, A2VDX9, A5PJP1, A6NCS6, A6NIN4, A6NJG2, A6NLJ0, A8MVW0, B7Z1M9, B8ZZ34, C9JTQ0, M0QZC1, O15499, O43541, P03971, P08353, P0C7L8, P0CG09, P0DPE3, P28283, P36313, P37318, P37319, Q0PHV7, Q1HCM0, Q29RM6, Q2EGB9, Q2KJ18, Q2M3V2, Q5VY09, Q6ZW31, Q8BLS7, Q8BRJ4, Q8N4B5, Q8NCU7

Diamond homologs: A0A1W2PPK0, A0A1W2PPM1, A1A546, A1YEY5, A1YFI3, A1YG57, A1YGA2, A2T733, A2T777, A2T7P4, A6NFQ7, G5EC89, L8E946, O14813, O15499, O35690, O42250, O42356, O42357, O42477, O70137, O73917, O75360, O95076, O97670, P0DMV5, P26367, P26630, P29454, P41935, P47237, P47238, P53544, P53545, P53546, P54366, P55813, P55864, P56915, P56916

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	0
Uncertain significance	53
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1180540	GRCh37/hg19 22q11.21(chr22:18889571-21464697)x1	Pathogenic
1879566	GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1	Pathogenic
526039	NC_000022.10:g.(?18910310)(19770565_?)del	Pathogenic
929331	GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1	Pathogenic

SpliceAI

347 predictions. Top by Δscore:

Variant	Effect	Δscore
22:19149424:G:GC	acceptor_gain	1.0000
22:19149658:CTCA:C	donor_loss	1.0000
22:19149659:TCAC:T	donor_loss	1.0000
22:19149660:CAC:C	donor_loss	1.0000
22:19149661:A:AC	donor_gain	1.0000
22:19149661:A:C	donor_loss	1.0000
22:19149662:C:CC	donor_gain	1.0000
22:19149346:C:A	donor_gain	0.9900
22:19149661:ACCT:A	donor_gain	0.9900
22:19149662:CCT:C	donor_gain	0.9900
22:19149662:CCTC:C	donor_gain	0.9900
22:19149415:C:CT	acceptor_gain	0.9800
22:19149416:A:T	acceptor_gain	0.9800
22:19149424:G:C	acceptor_gain	0.9800
22:19149657:ACTC:A	donor_loss	0.9800
22:19149426:G:C	acceptor_gain	0.9700
22:19149656:CACT:C	donor_loss	0.9700
22:19149183:T:TA	donor_gain	0.9600
22:19150023:AC:A	donor_gain	0.9600
22:19150024:CC:C	donor_gain	0.9600
22:19149183:TCGCA:T	donor_gain	0.9500
22:19149249:G:A	donor_gain	0.9500
22:19149322:T:TA	donor_gain	0.9500
22:19149426:G:GC	acceptor_gain	0.9500
22:19149718:A:AC	donor_gain	0.9500
22:19149719:C:CC	donor_gain	0.9500
22:19150018:CACT:C	donor_loss	0.9500
22:19150019:ACTC:A	donor_loss	0.9500
22:19150020:CTCA:C	donor_loss	0.9500
22:19150021:T:TA	donor_loss	0.9500

AlphaMissense

1285 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:19149083:T:C	N176D	0.999
22:19149087:G:C	F174L	0.999
22:19149087:G:T	F174L	0.999
22:19149089:A:G	F174L	0.999
22:19149727:T:C	Y150C	0.999
22:19149741:G:C	F145L	0.999
22:19149741:G:T	F145L	0.999
22:19149743:A:G	F145L	0.999
22:19149777:G:C	F133L	0.999
22:19149777:G:T	F133L	0.999
22:19149778:A:C	F133C	0.999
22:19149778:A:G	F133S	0.999
22:19149779:A:G	F133L	0.999
22:19149081:G:C	N176K	0.998
22:19149081:G:T	N176K	0.998
22:19149082:T:C	N176S	0.998
22:19149082:T:G	N176T	0.998
22:19149084:C:A	K175N	0.998
22:19149084:C:G	K175N	0.998
22:19149088:A:G	F174S	0.998
22:19149728:A:G	Y150H	0.998
22:19149742:A:C	F145C	0.998
22:19149742:A:G	F145S	0.998
22:19149082:T:A	N176I	0.997
22:19149743:A:T	F145I	0.997
22:19149754:A:T	L141H	0.997
22:19149069:T:A	K180N	0.996
22:19149069:T:G	K180N	0.996
22:19149080:G:T	R177S	0.996
22:19149088:A:C	F174C	0.996

dbSNP variants (sampled 300 via entrez): RS1000833361 (22:19151594 C>G), RS1000906962 (22:19151853 A>G), RS1001015822 (22:19146688 A>G), RS1001099218 (22:19152029 G>A), RS1001983311 (22:19149212 G>A,C), RS1003190868 (22:19148600 A>G), RS1004952958 (22:19149232 G>A,C), RS1005261635 (22:19149337 C>A), RS1005847943 (22:19148771 C>A,G,T), RS1007695058 (22:19151231 G>A,C), RS1008364609 (22:19148800 G>A,C,T), RS1009113176 (22:19149555 G>A,C), RS1009470297 (22:19149719 C>G,T), RS1010627674 (22:19146713 A>T), RS1011723882 (22:19149203 G>T)

Disease associations

OMIM: gene MIM:601845 | 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
GCST001639_30	Metabolite levels	3.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004723	coronary artery calcification

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

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	increases methylation	1
Asbestos, Crocidolite	decreases methylation	1
Asbestos, Amosite	decreases methylation	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