LRRC45
gene geneOn this page
Also known as MGC20806
Summary
LRRC45 (leucine rich repeat containing 45, HGNC:28302) is a protein-coding gene on chromosome 17q25.3, encoding Leucine-rich repeat-containing protein 45 (Q96CN5). Component of the proteinaceous fiber-like linker between two centrioles, required for centrosome cohesion.
Located in cytosol; microtubule organizing center; and plasma membrane.
Source: NCBI Gene 201255 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Moderate, GenCC) — +1 more curated relationship
- GWAS associations: 2
- Clinical variants (ClinVar): 192 total — 1 pathogenic
- MANE Select transcript:
NM_144999
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28302 |
| Approved symbol | LRRC45 |
| Name | leucine rich repeat containing 45 |
| Location | 17q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC20806 |
| Ensembl gene | ENSG00000169683 |
| Ensembl biotype | protein_coding |
| OMIM | 621312 |
| Entrez | 201255 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 10 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000306688, ENST00000577638, ENST00000581227, ENST00000582083, ENST00000583302, ENST00000583383, ENST00000891005, ENST00000891006, ENST00000891007, ENST00000891008, ENST00000891009, ENST00000920878, ENST00000920879, ENST00000920880
RefSeq mRNA: 1 — MANE Select: NM_144999
NM_144999
CCDS: CCDS11797
Canonical transcript exons
ENST00000306688 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001163008 | 82029093 | 82029185 |
| ENSE00001163014 | 82028613 | 82028683 |
| ENSE00001163070 | 82026899 | 82027011 |
| ENSE00001163079 | 82025379 | 82025507 |
| ENSE00001163100 | 82024278 | 82024339 |
| ENSE00001322054 | 82030609 | 82031151 |
| ENSE00002729899 | 82023305 | 82023863 |
| ENSE00003509720 | 82030319 | 82030466 |
| ENSE00003518219 | 82025000 | 82025178 |
| ENSE00003522514 | 82028234 | 82028311 |
| ENSE00003538648 | 82024693 | 82024763 |
| ENSE00003565752 | 82028397 | 82028508 |
| ENSE00003589885 | 82030065 | 82030238 |
| ENSE00003609288 | 82028011 | 82028146 |
| ENSE00003617333 | 82029543 | 82029635 |
| ENSE00003652128 | 82027386 | 82027444 |
| ENSE00003681328 | 82027674 | 82027751 |
Expression profiles
Bgee: expression breadth ubiquitous, 164 present calls, max score 92.71.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.2752 / max 36.7071, expressed in 1564 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 163445 | 4.0349 | 1556 |
| 163446 | 0.2403 | 125 |
Top tissues by expression
242 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 92.71 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 92.14 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 91.64 | gold quality |
| cerebellar cortex | UBERON:0002129 | 91.44 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 90.17 | gold quality |
| cerebellum | UBERON:0002037 | 89.77 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 87.50 | gold quality |
| granulocyte | CL:0000094 | 87.14 | gold quality |
| right lobe of liver | UBERON:0001114 | 86.73 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.50 | gold quality |
| ganglionic eminence | UBERON:0004023 | 84.69 | gold quality |
| apex of heart | UBERON:0002098 | 84.40 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 84.26 | gold quality |
| body of stomach | UBERON:0001161 | 83.67 | gold quality |
| ventricular zone | UBERON:0003053 | 83.65 | gold quality |
| cortical plate | UBERON:0005343 | 83.64 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 83.10 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 83.09 | gold quality |
| esophagus mucosa | UBERON:0002469 | 82.54 | gold quality |
| minor salivary gland | UBERON:0001830 | 82.51 | gold quality |
| transverse colon | UBERON:0001157 | 82.39 | gold quality |
| right frontal lobe | UBERON:0002810 | 82.09 | gold quality |
| spleen | UBERON:0002106 | 81.62 | gold quality |
| metanephros cortex | UBERON:0010533 | 81.56 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 81.37 | gold quality |
| mouth mucosa | UBERON:0003729 | 81.18 | gold quality |
| body of pancreas | UBERON:0001150 | 81.12 | gold quality |
| skin of abdomen | UBERON:0001416 | 80.99 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 80.85 | gold quality |
| stomach | UBERON:0000945 | 80.72 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.26 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
1 targeting LRRC45, 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-1307-5P | 72.89 | 61.08 | 5 |
Literature-anchored findings (GeneRIF, showing 1)
- LRRC45 is a critical component of the proteinaceous linker between two centrioles and is required for centrosome cohesion. (PMID:24035387)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lrrc45 | ENSDARG00000014005 |
| mus_musculus | Lrrc45 | ENSMUSG00000025145 |
| rattus_norvegicus | Lrrc45 | ENSRNOG00000045926 |
Paralogs (1): CEP83 (ENSG00000173588)
Protein
Protein identifiers
Leucine-rich repeat-containing protein 45 — Q96CN5 (reviewed: Q96CN5)
All UniProt accessions (2): Q96CN5, J3KTD4
UniProt curated annotations — full annotation on UniProt →
Function. Component of the proteinaceous fiber-like linker between two centrioles, required for centrosome cohesion.
Subunit / interactions. Homomer. Interacts with CROCC/rootletin and CEP250. Interacts with CEP44. Interacts with CCDC102B (via N-terminus).
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.
Post-translational modifications. Phosphorylated by NEK2 during misosis, phosphorylation reduces centrosomal localization which subsequently leads to centrosome separation.
RefSeq proteins (1): NP_659436* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR052116 | Centro_Cilium_Assembly | Family |
Pfam: PF13516
UniProt features (9 total): repeat 6, chain 1, coiled-coil region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96CN5-F1 | 83.38 | 0.42 |
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): 661
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 66 (showing top):
GOCC_MICROTUBULE_ORGANIZING_CENTER, GOCC_CENTROSOME, FISCHER_DREAM_TARGETS, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GOCC_CILIUM, GOCC_CILIARY_BASAL_BODY, CHENG_IMPRINTED_BY_ESTRADIOL, E2F3_UP.V1_UP, ASH1L_TARGET_GENES, CEBPZ_TARGET_GENES, CREB3L4_TARGET_GENES, FOXN3_TARGET_GENES, HDAC4_TARGET_GENES, HSD17B8_TARGET_GENES, RBM34_TARGET_GENES
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (8): centrosome (GO:0005813), cytosol (GO:0005829), plasma membrane (GO:0005886), ciliary basal body (GO:0036064), sperm midpiece (GO:0097225), sperm principal piece (GO:0097228), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| microtubule organizing center | 2 |
| sperm flagellum | 2 |
| binding | 1 |
| centriole | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cilium | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
817 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LRRC45 | CROCC | Q5TZA2 | 981 |
| LRRC45 | CNTLN | Q9NXG0 | 924 |
| LRRC45 | CEP250 | Q9BV73 | 809 |
| LRRC45 | CEP89 | Q96ST8 | 782 |
| LRRC45 | CDK5RAP2 | Q96SN8 | 766 |
| LRRC45 | SCLT1 | Q96NL6 | 665 |
| LRRC45 | CEP135 | Q66GS9 | 642 |
| LRRC45 | GAS2L1 | Q99501 | 606 |
| LRRC45 | CEP83 | Q9Y592 | 605 |
| LRRC45 | CEP164 | Q9UPV0 | 603 |
| LRRC45 | NEK2 | P51955 | 597 |
| LRRC45 | FBF1 | Q8TES7 | 571 |
| LRRC45 | ERICH5 | Q6P6B1 | 543 |
| LRRC45 | CCDC120 | Q96HB5 | 511 |
| LRRC45 | NEDD1 | Q8NHV4 | 506 |
IntAct
46 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PRMT8 | SYNCRIP | psi-mi:“MI:0914”(association) | 0.830 |
| KXD1 | LRRC45 | psi-mi:“MI:0915”(physical association) | 0.670 |
| LRRC45 | KXD1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| CCDC89 | LRRC45 | psi-mi:“MI:0915”(physical association) | 0.670 |
| LRRC45 | SSX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SSX7 | LRRC45 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LRRC45 | SSX7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ALAS1 | LRRC45 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MCC | LRRC45 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SSX2 | LRRC45 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LRRC45 | MID2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HTT | LRRC45 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCLT1 | CCDC22 | psi-mi:“MI:0914”(association) | 0.420 |
| LRRC45 | ANXA6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LRRC45 | UPP1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LRRC45 | PAK6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LRRC45 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| THAP11 | LRRC45 | psi-mi:“MI:0915”(physical association) | 0.370 |
| LRRC45 | ZDHHC17 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ENTHD1 | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| CKAP2 | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| H2AP | GNPAT | psi-mi:“MI:0914”(association) | 0.350 |
| PRMT8 | HNRNPR | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (22): LRRC45 (Two-hybrid), LRRC45 (Two-hybrid), LRRC45 (Two-hybrid), LRRC45 (Affinity Capture-MS), KXD1 (Two-hybrid), UPP1 (Affinity Capture-MS), LRRC45 (Two-hybrid), LRRC45 (Two-hybrid), MCC (Two-hybrid), CCDC89 (Two-hybrid), SSX7 (Two-hybrid), SSX2 (Two-hybrid), SSX2B (Two-hybrid), LRRC45 (Proximity Label-MS), LRRC45 (Affinity Capture-MS)
ESM2 similar proteins: A0JNH6, A1A5D9, A6NC98, A6NGB0, A6NI56, A7YH32, A9X1A5, B0KWC9, B1MTG4, B3EX63, B8JK76, F6XLV1, H7BZ55, P55937, P59242, Q08378, Q0P5D1, Q14980, Q29RS0, Q2KJ21, Q2TAC2, Q3TMW1, Q494R4, Q4QRL3, Q5RD60, Q5TZA2, Q60952, Q6PGZ0, Q6PHN1, Q6QZQ4, Q8CB62, Q8CHW5, Q8CJ40, Q8HZ57, Q8HZ58, Q8HZ59, Q8HZ60, Q8K2I2, Q8N137, Q8TD31
Diamond homologs: P29315, Q5ZI11, Q6B966, Q8CIM1, Q91VI7, Q96CN5
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| LRRC45 | “up-regulates activity” | CEP250 | binding |
| LRRC45 | “up-regulates activity” | CROCC | binding |
| NEK2 | “down-regulates activity” | LRRC45 | phosphorylation |
| CCDC102B | “up-regulates activity” | LRRC45 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
192 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 133 |
| Likely benign | 35 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3393451 | NM_144999.4(LRRC45):c.1402-2A>G | Pathogenic |
SpliceAI
2315 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:82023860:G:GT | donor_gain | 1.0000 |
| 17:82023860:GAAGG:G | donor_loss | 1.0000 |
| 17:82023861:A:T | donor_gain | 1.0000 |
| 17:82023861:AAG:A | donor_loss | 1.0000 |
| 17:82023864:GTG:G | donor_loss | 1.0000 |
| 17:82023865:T:G | donor_loss | 1.0000 |
| 17:82024575:G:GT | donor_gain | 1.0000 |
| 17:82024687:TCCTA:T | acceptor_loss | 1.0000 |
| 17:82024689:CTA:C | acceptor_loss | 1.0000 |
| 17:82024690:TA:T | acceptor_loss | 1.0000 |
| 17:82024691:AG:A | acceptor_gain | 1.0000 |
| 17:82024692:GG:G | acceptor_gain | 1.0000 |
| 17:82024761:GAG:G | donor_gain | 1.0000 |
| 17:82024995:T:TA | acceptor_gain | 1.0000 |
| 17:82024995:TGCA:T | acceptor_loss | 1.0000 |
| 17:82024996:GCAG:G | acceptor_loss | 1.0000 |
| 17:82024997:CAG:C | acceptor_loss | 1.0000 |
| 17:82024998:A:AG | acceptor_gain | 1.0000 |
| 17:82024998:AGC:A | acceptor_loss | 1.0000 |
| 17:82024999:G:A | acceptor_loss | 1.0000 |
| 17:82024999:G:GC | acceptor_gain | 1.0000 |
| 17:82024999:GC:G | acceptor_gain | 1.0000 |
| 17:82024999:GCC:G | acceptor_gain | 1.0000 |
| 17:82024999:GCCT:G | acceptor_gain | 1.0000 |
| 17:82024999:GCCTC:G | acceptor_gain | 1.0000 |
| 17:82025112:A:G | donor_gain | 1.0000 |
| 17:82025124:G:GT | donor_gain | 1.0000 |
| 17:82025174:GCTGG:G | donor_gain | 1.0000 |
| 17:82025175:C:G | donor_gain | 1.0000 |
| 17:82025177:GG:G | donor_gain | 1.0000 |
AlphaMissense
4346 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:82025018:C:A | N124K | 0.994 |
| 17:82025018:C:G | N124K | 0.994 |
| 17:82025392:T:A | N182K | 0.994 |
| 17:82025392:T:G | N182K | 0.994 |
| 17:82024698:C:A | N96K | 0.990 |
| 17:82024698:C:G | N96K | 0.990 |
| 17:82025013:T:A | W123R | 0.990 |
| 17:82025013:T:C | W123R | 0.990 |
| 17:82025108:C:A | N154K | 0.990 |
| 17:82025108:C:G | N154K | 0.990 |
| 17:82025391:A:T | N182I | 0.990 |
| 17:82025476:C:A | N210K | 0.990 |
| 17:82025476:C:G | N210K | 0.990 |
| 17:82025098:T:A | L151H | 0.987 |
| 17:82025098:T:C | L151P | 0.986 |
| 17:82025387:T:A | W181R | 0.986 |
| 17:82025387:T:C | W181R | 0.986 |
| 17:82025391:A:C | N182T | 0.986 |
| 17:82030753:T:A | V654D | 0.986 |
| 17:82025015:G:C | W123C | 0.985 |
| 17:82025015:G:T | W123C | 0.985 |
| 17:82025382:T:C | L179P | 0.984 |
| 17:82025017:A:T | N124I | 0.982 |
| 17:82025390:A:T | N182Y | 0.981 |
| 17:82025113:T:C | I156T | 0.980 |
| 17:82025390:A:C | N182H | 0.979 |
| 17:82025017:A:C | N124T | 0.976 |
| 17:82025106:A:T | N154Y | 0.976 |
| 17:82025412:G:A | G189D | 0.976 |
| 17:82025016:A:T | N124Y | 0.974 |
dbSNP variants (sampled 300 via entrez): RS1000218612 (17:82027580 A>C,G,T), RS1000334058 (17:82023022 C>A,G,T), RS1000585646 (17:82026285 G>A), RS1000661885 (17:82021823 G>C), RS1000956484 (17:82026560 T>C), RS1001041313 (17:82029451 C>A,G,T), RS1001060305 (17:82031245 C>G,T), RS1001547112 (17:82023238 C>G), RS1001581258 (17:82023073 C>A,G), RS1001611613 (17:82031546 GCCCCGCCAGCCGCGCGGCCGGGCGCC>G), RS1001885566 (17:82022158 G>A), RS1001916894 (17:82021892 C>T), RS1002121413 (17:82023441 C>T), RS1002573889 (17:82028274 C>G,T), RS1002809921 (17:82026799 C>T)
Disease associations
OMIM: gene MIM:621312 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Moderate | Autosomal recessive |
| ciliopathy | Limited | Autosomal recessive |
Mondo (2): ciliopathy (MONDO:0005308), neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010002_133 | Refractive error | 2.000000e-50 |
| GCST011053_11 | Neuroblastoma (pediatric) | 3.000000e-17 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| 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
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, decreases expression | 3 |
| Cyclosporine | decreases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol A | affects expression | 1 |
| methylparaben | increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Cannabidiol | decreases expression | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression | 1 |
| Oxygen | decreases expression | 1 |
| Testosterone | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | decreases expression | 1 |
Clinical trials (associated diseases)
204 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, |
| 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 |
| 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 |
| 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 |
| NCT00068224 | Not specified | COMPLETED | Clinical and Molecular Investigations Into Ciliopathies |
| NCT04874909 | Not specified | COMPLETED | Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM) |
| 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 |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
Related Atlas pages
- Associated diseases: ciliopathy, neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): ciliopathy, neuroblastoma