neurodevelopmental disorder
HP:0012759 · SaudiVarKB evidence summary derived from retained literature mentions.
450Phenotype mentions
100Publications
50Associated gene records
50Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| STAT3 | HGNC:11364 | 8 | 8 |
| CD4 | HGNC:1678 | 7 | 7 |
| CXCR5 | HGNC:1060 | 4 | 4 |
| MECP2 | HGNC:6990 | 4 | 4 |
| CD14 | HGNC:1628 | 4 | 4 |
| CCR7 | HGNC:1608 | 3 | 3 |
| CD40 | HGNC:11919 | 3 | 3 |
| EPG5 | HGNC:29331 | 3 | 3 |
| CCR5 | HGNC:1606 | 3 | 3 |
| ASPM | HGNC:19048 | 3 | 3 |
| CSMD1 | HGNC:14026 | 3 | 3 |
| TLR4 | HGNC:11850 | 3 | 3 |
| GRM7 | HGNC:4599 | 3 | 3 |
| CCR6 | HGNC:1607 | 3 | 3 |
| JAK1 | HGNC:6190 | 3 | 3 |
| GATA3 | HGNC:4172 | 3 | 3 |
| CXCR3 | HGNC:4540 | 3 | 3 |
| CDK5RAP2 | HGNC:18672 | 3 | 3 |
| STIL | HGNC:10879 | 3 | 3 |
| CEP135 | HGNC:29086 | 3 | 3 |
| CXCR4 | HGNC:2561 | 3 | 3 |
| ADAT3 | HGNC:25151 | 3 | 3 |
| CCR3 | HGNC:1604 | 3 | 3 |
| FOXP3 | HGNC:6106 | 2 | 2 |
| BDNF | HGNC:1033 | 2 | 2 |
| GFAP | HGNC:4235 | 2 | 2 |
| G6PD | HGNC:4057 | 2 | 2 |
| STAT1 | HGNC:11362 | 2 | 2 |
| SPTBN4 | HGNC:14896 | 2 | 2 |
| NAV3 | HGNC:15998 | 2 | 2 |
| CTNNB1 | HGNC:2514 | 2 | 2 |
| SEC31A | HGNC:17052 | 2 | 2 |
| CXCR2 | HGNC:6027 | 2 | 2 |
| ALDH7A1 | HGNC:877 | 2 | 2 |
| FOXP1 | HGNC:3823 | 2 | 2 |
| USP9X | HGNC:12632 | 2 | 2 |
| NUDT2 | HGNC:8049 | 2 | 2 |
| BCKDK | HGNC:16902 | 2 | 2 |
| UBE3A | HGNC:12496 | 2 | 2 |
| TRAPPC9 | HGNC:30832 | 2 | 2 |
| PPFIBP1 | HGNC:9249 | 2 | 2 |
| EXOC8 | HGNC:24659 | 2 | 2 |
| BAX | HGNC:959 | 2 | 2 |
| SETBP1 | HGNC:15573 | 2 | 2 |
| TLR3 | HGNC:11849 | 2 | 2 |
| FOXG1 | HGNC:3811 | 2 | 2 |
| WDR62 | HGNC:24502 | 2 | 2 |
| DEAF1 | HGNC:14677 | 2 | 2 |
| SMS | HGNC:11123 | 2 | 2 |
| TLR2 | HGNC:11848 | 2 | 2 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| c.2660C>T | c.2660C>T | 1 | 1 |
| p.Pro887Leu | p.Pro887Leu | 1 | 1 |
| c.236G>A | c.236G>A | 1 | 1 |
| p.Trp79* | p.Trp79* | 1 | 1 |
| c.283dupG | c.283dupG | 1 | 1 |
| c.835C>G | c.835C>G | 1 | 1 |
| p.Arg279Gly | p.Arg279Gly | 1 | 1 |
| c.813C>G | c.813C>G | 1 | 1 |
| p.His271Gln | p.His271Gln | 1 | 1 |
| c.694C>T | c.694C>T | 1 | 1 |
| p.Arg232Trp | p.Arg232Trp | 1 | 1 |
| c.47G>A | c.47G>A | 1 | 1 |
| p.Arg16His | p.Arg16His | 1 | 1 |
| c.419T>A | c.419T>A | 1 | 1 |
| p.Val140Asp | p.Val140Asp | 1 | 1 |
| p.His120Gln | p.His120Gln | 1 | 1 |
| p.Arg102Cys | p.Arg102Cys | 1 | 1 |
| c.3430T>C | c.3430T>C | 1 | 1 |
| p.Ser1144Pro | p.Ser1144Pro | 1 | 1 |
| p.Cys453Trp | p.Cys453Trp | 1 | 1 |
| R616Q | R616Q | 1 | 1 |
| rs5752063 | rs5752063 | 1 | 1 |
| rs12627825 | rs12627825 | 1 | 1 |
| rs67049052 | rs67049052 | 1 | 1 |
| rs10237910 | rs10237910 | 1 | 1 |
| rs7965350 | rs7965350 | 1 | 1 |
| rs3812536 | rs3812536 | 1 | 1 |
| rs9693108 | rs9693108 | 1 | 1 |
| rs1802752 | rs1802752 | 1 | 1 |
| rs3924871 | rs3924871 | 1 | 1 |
| rs7818 | rs7818 | 1 | 1 |
| rs9383844 | rs9383844 | 1 | 1 |
| rs9767113 | rs9767113 | 1 | 1 |
| c.266T>C | c.266T>C | 1 | 1 |
| p.L89P | p.L89P | 1 | 1 |
| rs6350 | rs6350 | 1 | 1 |
| rs6280 | rs6280 | 1 | 1 |
| rs6277 | rs6277 | 1 | 1 |
| rs4633 | rs4633 | 1 | 1 |
| p.R664* | p.R664* | 1 | 1 |
| p.Ile164Thr | p.Ile164Thr | 1 | 1 |
| p.Asn176Ser | p.Asn176Ser | 1 | 1 |
| p.Arg1343His | p.Arg1343His | 1 | 1 |
| p.Asn248Phe | p.Asn248Phe | 1 | 1 |
| p.Lys166* | p.Lys166* | 1 | 1 |
| p.Ala102Glu | p.Ala102Glu | 1 | 1 |
| c.1329dup | c.1329dup | 1 | 1 |
| p.F28S | p.F28S | 1 | 1 |
| c.83T>C | c.83T>C | 1 | 1 |
| p.Phe28Ser | p.Phe28Ser | 1 | 1 |
Associated population records
Co-mentioned in the same publicationsSupporting publications
100 records- 2026Pathogenic DDX39A Variant Disrupts Nuclear Homeostasis and Causes an Early-Onset Neurodegenerative Disorder With Cerebral Atrophy.Clinical genetics1 mentions
- 2026EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.Brain : a journal of neurology1 mentions
- 2026Living in the shadows: Correlational analysis of behavioral trajectories and quality of life among siblings of children with neurodevelopmental disorders.Journal of pediatric nursing1 mentions
- 2026Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport.Journal of human genetics1 mentions
- 2026Clinical and Genetic Spectrum of SCN8A-Related Disorders: A Retrospective Study From the Gulf Region.Journal of child neurology1 mentions
- 2026Knowledge and Awareness of Tourette's Syndrome among Teachers in Eastern Region, Saudi Arabia.Tremor and other hyperkinetic movements (New York, N.Y.)1 mentions
- 2026Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.American journal of human genetics1 mentions
- 2026Integrative single‑cell multi‑omics network analysis to elucidate epigenetic regulation in neurodevelopmental disorders.SLAS technology1 mentions
- 2026Plasma clusterin levels in autism spectrum disorder: bridging biomarkers to social and cognitive dysfunctions.BMC pediatrics1 mentions
- 2026Variants in MTNAP1 underlie a neurodegenerative disorder by impairing mitochondrial stability.NPJ genomic medicine1 mentions
- 2026A Novel ATXN7L3 De Novo Variant Underlies Harel-Tora Neurodevelopmental Syndrome (HATONS) With Pre-Axial Polydactyly.Clinical genetics1 mentions
- 2026Adaptive systems for cognitive impairments: a systematic review of current trends and future directions.Disability and rehabilitation. Assistive technology1 mentions
- 2026Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.Scientific reports1 mentions
- 2026Microbiota-driven neuroimmune mechanisms in brain disorders: Microglial activation, cytokine signaling, and translational implications.Journal of neuroimmunology1 mentions
- 2026Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.American journal of human genetics1 mentions
- 2026Impact of indoor environment quality on autistic behaviours in autism schools of Saudi Arabia.Environmental pollution (Barking, Essex : 1987)1 mentions
- 2026Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.Nature genetics1 mentions
- 2026Further Evidence for LRRC7 Gene Involvement in Neurodevelopmental Disorder: A Novel Variant.The journal of gene medicine1 mentions
- 2026Deep learning based approach for Behavior classification in diagnoses of Autism Spectrum Disorder using naturalistic videos.Frontiers in computational neuroscience1 mentions
- 2026Therapeutic potential of low-frequency transcranial magnetic stimulation in children with autism spectrum disorder: sensory and behavioral outcomes-a randomized trial.Frontiers in psychiatry1 mentions
- 2026Discrete wavelet transform-driven optimized deep learning-based framework for dyslexia detection using EEG signals.Frontiers in neuroinformatics1 mentions
- 2026Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2026FGF12-Related Early-Onset Epileptic Encephalopathies: Therapeutic Response to Sodium Channel Blockers.American journal of medical genetics. Part A1 mentions
- 2026Hybrid Vi+ECNN framework for advanced ADHD diagnostic accuracy in medical imaging.Scientific reports1 mentions
- 2026Bridging development and disease: the potential of LncRNAs as biomarkers and therapeutics in pediatric neurological disorders.Pediatric research1 mentions
- 2026Prevalence of ADHD Among Saudi Children and Adolescents.International journal of environmental research and public health1 mentions
- 2026Variability-dominated auditory cortical dysfunction and targeted VNS modulation in a Mecp2+/- model of Rett syndrome.Experimental neurology1 mentions
- 2026Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1.European journal of human genetics : EJHG1 mentions
- 2026Homozygous Variant in NADSYN1 Causes Multiple Congenital Vertebral Malformation, With Neurodevelopmental Disorder.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience1 mentions
- 2026GLI1-fusion neoplasm of the tongue: report of a pediatric case associated with SHOX deficiency disorder.Virchows Archiv : an international journal of pathology1 mentions
- 2026The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis.iScience1 mentions
- 2026Enhance autism spectrum disorder detection using stacking ensemble learning model with explainable AI.BioData mining1 mentions
- 2026Molecular Pharmacology of T-Type Calcium Channels and Their Roles in Neurological Disorders.Medicinal research reviews1 mentions
- 2026Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.The Journal of clinical investigation1 mentions
- 2026Beyond categorical boundaries: Common molecular and cellular pathways in autism spectrum disorder and schizophrenia.Progress in neuro-psychopharmacology & biological psychiatry1 mentions
- 2026Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2026Autism spectrum disorder (ASD): zinc suppresses cerebellar ultrastructural alterations and modulates the oxidative stress/gliosis/neuronal loss axis-mediated ASD.Ultrastructural pathology1 mentions
- 2026Cross-attention guided explainable deep transformer model for multi-level classification of rare neurological disorders using MRI images.Scientific reports1 mentions
- 2026Co-Phosphoregulatory Network Underlying Functional Coherence of TLK1 and TLK2 Kinase Paralogs.International journal of molecular sciences1 mentions
- 2026Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.European journal of human genetics : EJHG1 mentions
- 2026Association of ABO blood groups and Rh Factor with autism spectrum disorder, down syndrome, and attention deficit hyperactivity disorder among children in the Saudi population.Pakistan journal of medical sciences1 mentions
- 2026AI-enabled eye-movement and emerging multimodal frameworks for precision dyslexia screening and reading pattern analysis.Frontiers in medicine1 mentions
- 2025Perception and behavior toward neuropsychiatric disorders in Saudi Arabia: A systematic review and quality assessment.Autism : the international journal of research and practice1 mentions
- 2025The potential neuroprotective effects of Spirulina platensis in a valproic acid-induced experimental model of autism in the siblings of albino rats: targeting PIk3/AKT/mTOR signalling pathway.Nutritional neuroscience1 mentions
- 2025Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2025Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2025Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2025ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.Clinical genetics1 mentions
- 2025Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2025The effectiveness of using artificial intelligence in improving academic skills of school-aged students with mild intellectual disabilities in Saudi Arabia.Research in developmental disabilities1 mentions
- 2025Further delineation of the SCAF4-associated neurodevelopmental disorder.European journal of human genetics : EJHG1 mentions
- 2025Implications and Identification of Specific Learning Disability Using Weighted Ensemble Learning Model.Child: care, health and development1 mentions
- 2025Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects.Clinical genetics1 mentions
- 2025Exploring the association between serum magnesium level and autism spectrum disorder using validated spectrofluorimetric method.Analytical biochemistry1 mentions
- 2025Integrative approaches to m6A and m5C RNA modifications in autism spectrum disorder revealing potential causal variants.Mammalian genome : official journal of the International Mammalian Genome Society1 mentions
- 2025The association of social media use and other social factors with symptoms of attention-deficit/hyperactivity disorder in Egyptian university students.BMC psychiatry1 mentions
- 2025CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs).Human genetics1 mentions
- 2025Investigating the link between microplastic exposure (benzyl butyl phthalate) and neurodegenerative diseases using high-performance computational toxicology.Toxicology research1 mentions
- 2025Biochemical Markers as Predictors of Health Outcomes in Autism Spectrum Disorder: A Comprehensive Systematic Review and Meta-analysis.Journal of molecular neuroscience : MN1 mentions
- 2025βIV spectrin abundancy, cellular distribution and sensitivity to AKT/GSK3 regulation in schizophrenia.Molecular psychiatry1 mentions
- 2025Identifying iNOS and glycogen as biomarkers for degenerated cerebellar purkinje cells in autism spectrum disorder: Protective effects of erythropoietin and zinc sulfate.PloS one1 mentions
- 2025Phytoconstituents of Hericium erinaceus Exert Benefits for ADHD Conditions by Targeting SLC6A4: Extraction, Spectroscopic Characterization, Phytochemical Screening, In Vitro, and Computational Perspectives.ACS omega1 mentions
- 2025RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.Nature communications1 mentions
- 2025Autism Spectrum Disorder Detection Using Prominent Connectivity Features from Electroencephalography.International journal of neural systems1 mentions
- 2025C12ORF57: a novel principal regulator of synaptic AMPA currents and excitatory neuronal homeostasis.bioRxiv : the preprint server for biology1 mentions
- 2025Correspondence on "Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort" by Akter et al.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2025Primary School Teachers' Knowledge and Misconceptions Regarding Attention Deficit Hyperactivity Disorder in the Qassim Region, Saudi Arabia.Cureus1 mentions
- 2025ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.Brain : a journal of neurology1 mentions
- 2025The Effect of Task-Oriented Basketball Training on Motor Skill-Related Fitness in Children with Developmental Coordination Disorder.Sports (Basel, Switzerland)1 mentions
- 2025Enhanced detection of autism spectrum disorder through neuroimaging data using stack classifier ensembled with modified VGG-19.Acta radiologica (Stockholm, Sweden : 1987)1 mentions
- 2025Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.American journal of human genetics1 mentions
- 2025Comparative evaluation of certain biomarkers emphasizing abnormal GABA inhibitory effect and glutamate excitotoxicity in autism spectrum disorders.Frontiers in psychiatry1 mentions
- 2025SLK is mutated in individuals with a neurodevelopmental disorder.EBioMedicine1 mentions
- 2025Diagnosis and Management of Attention-Deficit/Hyperactivity Disorder: A Practitioner's Perspective.Journal of clinical medicine1 mentions
- 2025Deciphering the structural and dynamic effects of SHP2-E76 mutations: mechanistic insights into oncogenic activation.BMC chemistry1 mentions
- 2025Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.medRxiv : the preprint server for health sciences1 mentions
- 2025Identification of cell specific biomarkers for intellectual disability via single cell RNA sequencing and transcriptomic bioinformatics approaches.Scientific reports1 mentions
- 2025Screen Time Matters: Exploring the Behavioral Effects of Devices on Saudi Children.International journal of environmental research and public health1 mentions
- 2025HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.Annals of neurology1 mentions
- 2025A narrative review of Phase III and IV clinical trials for the pharmacological treatment of Tourette's syndrome in children, adults, and older adults.Medicine1 mentions
- 2025A Report of a Child with SEC31A-Related Neurodevelopmental Disorder.International journal of molecular sciences1 mentions
- 2025Levodopa-Responsive Dystonia Secondary to CTNNB1 Neurodevelopmental Disorder.Movement disorders clinical practice1 mentions
- 2025Comparing Obstetrical Outcomes Between Attention Deficit Hyperactivity Disorder and Attention Deficit Disorder: A Population-Based Studys.Journal of clinical medicine1 mentions
- 2025ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant.Scientific reports1 mentions
- 2025Rett syndrome: advances in Understanding MeCP2 function, potential gene therapies, and public health implications.Molecular biology reports1 mentions
- 2025Unmasking the Hidden Struggle Behind the White Coat: Screening Adult ADHD Symptoms Among Medical Students at the University of Tabuk, Saudi Arabia (2025).Healthcare (Basel, Switzerland)1 mentions
- 2025Exploring Attention-Deficit/Hyperactivity Disorder Symptoms in Patients With Atopic Dermatitis by Disease Severity: Cross-Sectional Analysis.JMIR dermatology1 mentions
- 2025NAV3 Missense Variant in a Homozygous State: Strengthening Links to Neurodevelopmental Disorder.Current medicinal chemistry1 mentions
- 2025Pathogenic TRIM74 Mutation Disrupts Protein Homeostasis and Triggers Proteotoxic Neurodegeneration via Structural Destabilization.ACS chemical neuroscience1 mentions
- 2025A programmed decline in ribosome levels governs human early neurodevelopment.Nature cell biology1 mentions
- 2025Challenges in amphetamine medication availability for individuals with ADHD: a narrative review of the current state of evidence.Frontiers in psychiatry1 mentions
- 2025Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.Orphanet journal of rare diseases1 mentions
- 2025Bariatric surgery outcomes in obese adults with cognitive impairments: A systematic review.Turkish journal of surgery1 mentions
- 2025Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia.Movement disorders : official journal of the Movement Disorder Society1 mentions
- 2025Development of a methodology for the volume estimation of the prefrontal cortical subfields in very pre-term infants using magnetic resonance imaging and stereology.Asian biomedicine : research, reviews and news1 mentions
- 2025Neuroplasticity and the microbiome: how microorganisms influence brain change.Frontiers in microbiology1 mentions
- 2025Case Report: A homozygous selenocysteine insertion sequence-binding protein 2 (SECISBP2) gene mutation in a pediatric patient.Frontiers in pediatrics1 mentions
- 2025Genetic variants underlying congenital Zika syndrome and severe microcephaly: a systematic review and meta-analysis.Virusdisease1 mentions
- 2025Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.Brain communications1 mentions
- 2025Evaluation of General Public Awareness, Knowledge, and Attitude Towards Attention-Deficit/Hyperactivity Disorder in the Riyadh Region of Saudi Arabia.Cureus1 mentions