SP9
gene geneOn this page
Also known as ZNF990
Summary
SP9 (Sp9 transcription factor, HGNC:30690) is a protein-coding gene on chromosome 2q31.1, encoding Transcription factor Sp9 (P0CG40). Transcription factor which plays a key role in limb development.
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin.
Source: NCBI Gene 100131390 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC) — +1 more curated relationship
- Clinical variants (ClinVar): 58 total — 4 pathogenic, 2 likely-pathogenic
- MANE Select transcript:
NM_001145250
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30690 |
| Approved symbol | SP9 |
| Name | Sp9 transcription factor |
| Location | 2q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZNF990 |
| Ensembl gene | ENSG00000217236 |
| Ensembl biotype | protein_coding |
| OMIM | 621003 |
| Entrez | 100131390 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000394967
RefSeq mRNA: 1 — MANE Select: NM_001145250
NM_001145250
CCDS: CCDS46453
Canonical transcript exons
ENST00000394967 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001559933 | 174334954 | 174335113 |
| ENSE00001560331 | 174336107 | 174338500 |
Expression profiles
Bgee: expression breadth broad, 44 present calls, max score 88.52.
FANTOM5 (CAGE): breadth broad, TPM avg 0.8502 / max 96.9834, expressed in 197 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 23790 | 0.6013 | 147 |
| 23791 | 0.2489 | 104 |
Top tissues by expression
125 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 | 88.52 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.82 | gold quality |
| ganglionic eminence | UBERON:0004023 | 69.89 | gold quality |
| putamen | UBERON:0001874 | 68.38 | gold quality |
| prefrontal cortex | UBERON:0000451 | 68.19 | gold quality |
| nucleus accumbens | UBERON:0001882 | 68.08 | gold quality |
| caudate nucleus | UBERON:0001873 | 67.70 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 67.44 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 65.60 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 64.47 | gold quality |
| frontal cortex | UBERON:0001870 | 64.42 | gold quality |
| ventricular zone | UBERON:0003053 | 64.41 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 64.38 | gold quality |
| temporal lobe | UBERON:0001871 | 64.37 | gold quality |
| amygdala | UBERON:0001876 | 64.22 | gold quality |
| stromal cell of endometrium | CL:0002255 | 64.17 | gold quality |
| cerebral cortex | UBERON:0000956 | 63.54 | gold quality |
| primary visual cortex | UBERON:0002436 | 63.02 | gold quality |
| cortical plate | UBERON:0005343 | 62.61 | gold quality |
| right frontal lobe | UBERON:0002810 | 58.74 | gold quality |
| Ammon’s horn | UBERON:0001954 | 56.49 | gold quality |
| hypothalamus | UBERON:0001898 | 56.22 | gold quality |
| bone marrow cell | CL:0002092 | 55.25 | gold quality |
| brain | UBERON:0000955 | 54.47 | gold quality |
| colonic epithelium | UBERON:0000397 | 53.32 | gold quality |
| skin of abdomen | UBERON:0001416 | 51.50 | gold quality |
| substantia nigra | UBERON:0002038 | 49.48 | gold quality |
| fallopian tube | UBERON:0003889 | 47.91 | gold quality |
| right uterine tube | UBERON:0001302 | 47.03 | gold quality |
| placenta | UBERON:0001987 | 45.21 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-5 | yes | 18.99 |
| E-MTAB-8894 | no | 469.01 |
| E-ANND-3 | no | 0.33 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1564.1 | SP9 | Three-zinc finger Kruppel-related |
| MA1564.2 | SP9 | Three-zinc finger Kruppel-related |
JASPAR matrix evidence (PMIDs): PMID:26187067
Literature-anchored findings (GeneRIF, showing 1)
- De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity. (PMID:38288683)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sp9 | ENSDARG00000099374 |
| mus_musculus | Sp9 | ENSMUSG00000068859 |
| rattus_norvegicus | Sp9 | ENSRNOG00000028187 |
| drosophila_melanogaster | luna | FBGN0040765 |
Paralogs (22): KLF6 (ENSG00000067082), KLF8 (ENSG00000102349), KLF5 (ENSG00000102554), KLF1 (ENSG00000105610), KLF3 (ENSG00000109787), KLF7 (ENSG00000118263), KLF12 (ENSG00000118922), KLF9 (ENSG00000119138), KLF2 (ENSG00000127528), KLF16 (ENSG00000129911), KLF4 (ENSG00000136826), KLF10 (ENSG00000155090), KLF15 (ENSG00000163884), SP8 (ENSG00000164651), KLF13 (ENSG00000169926), SP7 (ENSG00000170374), KLF17 (ENSG00000171872), KLF11 (ENSG00000172059), SP6 (ENSG00000189120), SP5 (ENSG00000204335), KLF14 (ENSG00000266265), KLF18 (ENSG00000283039)
Protein
Protein identifiers
Transcription factor Sp9 — P0CG40 (reviewed: P0CG40)
All UniProt accessions (1): P0CG40
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor which plays a key role in limb development. Positively regulates FGF8 expression in the apical ectodermal ridge (AER) and contributes to limb outgrowth in embryos.
Subcellular location. Nucleus.
Domain organisation. The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors. In SP9, the motif is inactive.
Similarity. Belongs to the Sp1 C2H2-type zinc-finger protein family.
RefSeq proteins (1): NP_001138722* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096
UniProt features (7 total): zinc finger region 3, chain 1, region of interest 1, short sequence motif 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P0CG40-F1 | 49.04 | 0.00 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 440
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 21 (showing top):
GOBP_APPENDAGE_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT, MARSON_BOUND_BY_E2F4_UNSTIMULATED, GOBP_EMBRYONIC_MORPHOGENESIS, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, GOBP_APPENDAGE_MORPHOGENESIS, GOBP_EMBRYONIC_APPENDAGE_MORPHOGENESIS, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ZNF146_TARGET_GENES, BLANCO_MELO_INFLUENZA_A_INFECTION_A594_CELLS_DN, BLANCO_MELO_COVID19_SARS_COV_2_INFECTION_A594_CELLS_DN, DESCARTES_MAIN_FETAL_SATB2_LRRC7_POSITIVE_CELLS, GOMF_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY, GOMF_CIS_REGULATORY_REGION_SEQUENCE_SPECIFIC_DNA_BINDING
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), embryonic limb morphogenesis (GO:0030326)
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), zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), sequence-specific DNA binding (GO:0043565), metal ion binding (GO:0046872)
GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| limb morphogenesis | 1 |
| embryonic appendage morphogenesis | 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 |
| transition metal ion binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| DNA binding | 1 |
| cation binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
572 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SP9 | ACRV1 | P26436 | 883 |
| SP9 | LIPN | Q5VXI9 | 792 |
| SP9 | LRP5 | O75197 | 582 |
| SP9 | PCSK5 | Q92824 | 547 |
| SP9 | TMEM176B | Q3YBM2 | 542 |
| SP9 | DNAAF10 | Q96MX6 | 525 |
| SP9 | DLX2 | Q07687 | 503 |
| SP9 | GSX2 | Q9BZM3 | 474 |
| SP9 | TSHZ1 | Q6ZSZ6 | 437 |
| SP9 | DLX1 | P56177 | 436 |
| SP9 | ETAA1 | Q9NY74 | 423 |
| SP9 | GSX1 | Q9H4S2 | 409 |
| SP9 | ASCL1 | P50553 | 404 |
| SP9 | STAT3 | P40763 | 402 |
| SP9 | VRTN | Q9H8Y1 | 384 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| ATG16L1 | psi-mi:“MI:0914”(association) | 0.350 | |
| SP7 | IGF2BP3 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (14): SP9 (Proximity Label-MS), SP9 (Proximity Label-MS), SP9 (Proximity Label-MS), SP9 (Proximity Label-MS), SP9 (Proximity Label-MS), SP9 (Proximity Label-MS), SP9 (Proximity Label-MS), SP9 (Proximity Label-MS), SP9 (Proximity Label-MS), SP9 (Proximity Label-MS), SP9 (Proximity Label-MS), SP9 (Proximity Label-MS), SP9 (Proximity Label-MS), SP9 (Proximity Label-MS)
ESM2 similar proteins: A0JC51, A5ABV9, B0X9H6, G5EGB2, O09100, O57311, O60481, O73689, O95409, P07247, P0CG40, P10070, P23769, P23824, P39768, P43694, P46152, P46684, P91623, Q00939, Q08369, Q0Q0E4, Q0VA40, Q0VGT2, Q15915, Q1A1A4, Q4V5A3, Q60987, Q61602, Q62520, Q62521, Q64HY3, Q6DJQ6, Q6P0J3, Q7TQ40, Q8JJC0, Q8N9L1, Q91660, Q91689, Q924Y4
Diamond homologs: A5ABV9, O08876, O14901, O70494, O89090, O89091, P08047, P0CG40, P41696, Q01714, Q02446, Q02447, Q0VA40, Q13351, Q22678, Q3SY56, Q5XGT8, Q62445, Q64HY3, Q64HY5, Q6BEB4, Q6NW96, Q6P0J3, Q8BMJ8, Q8IXZ3, Q8K1S5, Q8TDD2, Q8VI67, Q90WR8, Q9ESX2, Q9JHX2, Q9TZ64, A1C6L9, A1DH89, A2QCJ9, B0XSK6, B8NGC8, G4N3L5, K9GKQ6, O14335
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
58 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 2 |
| Uncertain significance | 49 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (6)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1297467 | NM_001145250.2(SP9):c.1133A>G (p.Glu378Gly) | Pathogenic |
| 1297468 | NM_001145250.2(SP9):c.1216del (p.His406fs) | Pathogenic |
| 1297469 | NM_001145250.2(SP9):c.1192_1207dup (p.Arg403fs) | Pathogenic |
| 4813568 | NM_001145250.2(SP9):c.245C>A (p.Ser82Ter) | Pathogenic |
| 1297466 | NM_001145250.2(SP9):c.1133A>C (p.Glu378Ala) | Likely pathogenic |
| 4820605 | NM_001145250.2(SP9):c.1230_1231del (p.His410_Ile411insTer) | Likely pathogenic |
SpliceAI
168 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:174335110:CGGGG:C | donor_loss | 1.0000 |
| 2:174335111:GGG:G | donor_gain | 1.0000 |
| 2:174335112:GG:G | donor_gain | 1.0000 |
| 2:174335112:GGG:G | donor_gain | 1.0000 |
| 2:174335113:GG:G | donor_gain | 1.0000 |
| 2:174335114:G:GA | donor_loss | 1.0000 |
| 2:174335114:G:GG | donor_gain | 1.0000 |
| 2:174335115:T:G | donor_loss | 1.0000 |
| 2:174335109:TCGGG:T | donor_gain | 0.9900 |
| 2:174335110:CGGG:C | donor_gain | 0.9900 |
| 2:174335111:GGGG:G | donor_gain | 0.9900 |
| 2:174336103:CTAG:C | acceptor_loss | 0.9800 |
| 2:174336104:TAGG:T | acceptor_loss | 0.9800 |
| 2:174336105:AGG:A | acceptor_loss | 0.9800 |
| 2:174336106:GGAA:G | acceptor_gain | 0.9800 |
| 2:174336100:A:AG | acceptor_gain | 0.9700 |
| 2:174336105:A:AG | acceptor_gain | 0.9700 |
| 2:174336106:G:GG | acceptor_gain | 0.9700 |
| 2:174336105:AG:A | acceptor_gain | 0.9600 |
| 2:174336106:GG:G | acceptor_gain | 0.9600 |
| 2:174336106:GGA:G | acceptor_gain | 0.9600 |
| 2:174336092:T:G | acceptor_gain | 0.9400 |
| 2:174336091:A:AG | acceptor_gain | 0.9300 |
| 2:174336097:C:G | acceptor_gain | 0.9300 |
| 2:174336101:C:G | acceptor_gain | 0.9300 |
| 2:174336096:A:AG | acceptor_gain | 0.9100 |
| 2:174335917:A:AG | donor_gain | 0.8200 |
| 2:174336104:TAGGA:T | acceptor_gain | 0.8200 |
| 2:174336105:AGGAA:A | acceptor_gain | 0.8200 |
| 2:174336106:GGAAG:G | acceptor_gain | 0.8200 |
AlphaMissense
3104 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:174337100:T:A | C339S | 1.000 |
| 2:174337100:T:C | C339R | 1.000 |
| 2:174337101:G:A | C339Y | 1.000 |
| 2:174337101:G:C | C339S | 1.000 |
| 2:174337131:T:C | L349P | 1.000 |
| 2:174337139:C:A | H352N | 1.000 |
| 2:174337139:C:G | H352D | 1.000 |
| 2:174337140:A:G | H352R | 1.000 |
| 2:174337141:C:A | H352Q | 1.000 |
| 2:174337141:C:G | H352Q | 1.000 |
| 2:174337143:T:C | L353P | 1.000 |
| 2:174337145:C:A | R354S | 1.000 |
| 2:174337151:C:G | H356D | 1.000 |
| 2:174337153:C:A | H356Q | 1.000 |
| 2:174337153:C:G | H356Q | 1.000 |
| 2:174337169:T:C | F362L | 1.000 |
| 2:174337171:C:A | F362L | 1.000 |
| 2:174337171:C:G | F362L | 1.000 |
| 2:174337175:T:A | C364S | 1.000 |
| 2:174337175:T:C | C364R | 1.000 |
| 2:174337176:G:A | C364Y | 1.000 |
| 2:174337176:G:C | C364S | 1.000 |
| 2:174337177:C:G | C364W | 1.000 |
| 2:174337190:T:A | C369S | 1.000 |
| 2:174337190:T:C | C369R | 1.000 |
| 2:174337191:G:A | C369Y | 1.000 |
| 2:174337191:G:C | C369S | 1.000 |
| 2:174337192:C:G | C369W | 1.000 |
| 2:174337198:G:C | K371N | 1.000 |
| 2:174337198:G:T | K371N | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000267959 (2:174333694 T>C), RS1000297496 (2:174337594 G>A,T), RS1001373621 (2:174336790 G>A,C,T), RS1001770619 (2:174333314 C>A,T), RS1001824534 (2:174336356 C>T), RS1002902110 (2:174337899 A>G), RS1003088011 (2:174334895 C>T), RS1003369310 (2:174333925 G>A,C), RS1003443712 (2:174335193 C>T), RS1003827712 (2:174334834 C>A), RS1004390868 (2:174334605 C>T), RS1005897712 (2:174338752 A>G), RS1006073213 (2:174333219 C>G), RS1007353292 (2:174338960 A>C), RS1007363610 (2:174338378 TATC>T)
Disease associations
OMIM: gene MIM:621003 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Strong | Autosomal dominant |
| complex neurodevelopmental disorder | Moderate | Autosomal dominant |
Mondo (3): intellectual disability (MONDO:0001071), neurodevelopmental disorder (MONDO:0700092), complex neurodevelopmental disorder (MONDO:0100038)
Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
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 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
10 total (human), top 10 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases methylation | 1 |
| ferrous chloride | decreases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | increases expression, affects cotreatment | 1 |
| Air Pollutants | affects methylation, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Nitrogen Dioxide | affects methylation, increases abundance | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Particulate Matter | affects methylation, increases abundance | 1 |
Clinical trials (associated diseases)
392 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| 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 |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| 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 |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| 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 |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| 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) |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
Related Atlas pages
- Associated diseases: neurodevelopmental disorder, complex neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): neurodevelopmental disorder