intellectual disability
HP:0001249 · SaudiVarKB evidence summary derived from retained literature mentions.
717Phenotype mentions
100Publications
50Associated gene records
50Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| BDNF | HGNC:1033 | 10 | 10 |
| FMR1 | HGNC:3775 | 6 | 6 |
| ADAT3 | HGNC:25151 | 6 | 6 |
| ASPM | HGNC:19048 | 5 | 5 |
| LGI1 | HGNC:6572 | 5 | 5 |
| SIRT1 | HGNC:14929 | 4 | 4 |
| TRAPPC9 | HGNC:30832 | 4 | 4 |
| HOXA1 | HGNC:5099 | 4 | 4 |
| ALKBH8 | HGNC:25189 | 4 | 4 |
| PARP1 | HGNC:270 | 3 | 3 |
| ALDH3A2 | HGNC:403 | 3 | 3 |
| ALDH7A1 | HGNC:877 | 3 | 3 |
| CA2 | HGNC:1373 | 3 | 3 |
| PGAP3 | HGNC:23719 | 3 | 3 |
| DYM | HGNC:21317 | 3 | 3 |
| WDR45B | HGNC:25072 | 3 | 3 |
| TLR4 | HGNC:11850 | 3 | 3 |
| SLC13A5 | HGNC:23089 | 3 | 3 |
| CNTF | HGNC:2169 | 3 | 3 |
| WDR62 | HGNC:24502 | 3 | 3 |
| GPI | HGNC:4458 | 3 | 3 |
| WIPI2 | HGNC:32225 | 3 | 3 |
| ATP8A2 | HGNC:13533 | 3 | 3 |
| LARP7 | HGNC:24912 | 3 | 3 |
| CIT | HGNC:1985 | 3 | 3 |
| CDK5RAP2 | HGNC:18672 | 3 | 3 |
| C12orf57 | HGNC:29521 | 3 | 3 |
| PUS7 | HGNC:26033 | 3 | 3 |
| METTL23 | HGNC:26988 | 3 | 3 |
| THOC6 | HGNC:28369 | 3 | 3 |
| PAH | HGNC:8582 | 2 | 2 |
| ULK1 | HGNC:12558 | 2 | 2 |
| APOE | HGNC:613 | 2 | 2 |
| SHH | HGNC:10848 | 2 | 2 |
| DIAPH1 | HGNC:2876 | 2 | 2 |
| ASTN1 | HGNC:773 | 2 | 2 |
| ASTN2 | HGNC:17021 | 2 | 2 |
| NALCN | HGNC:19082 | 2 | 2 |
| DNMT3A | HGNC:2978 | 2 | 2 |
| PTEN | HGNC:9588 | 2 | 2 |
| SPTBN4 | HGNC:14896 | 2 | 2 |
| ABCB1 | HGNC:40 | 2 | 2 |
| SPG11 | HGNC:11226 | 2 | 2 |
| TRMT1 | HGNC:25980 | 2 | 2 |
| STS | HGNC:11425 | 2 | 2 |
| ARID1B | HGNC:18040 | 2 | 2 |
| MAN2B1 | HGNC:6826 | 2 | 2 |
| ADNP | HGNC:15766 | 2 | 2 |
| USP9X | HGNC:12632 | 2 | 2 |
| SUMF1 | HGNC:20376 | 2 | 2 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| c.436delC | c.436delC | 2 | 2 |
| p.R226W | p.R226W | 2 | 2 |
| c.676C>T | c.676C>T | 2 | 2 |
| c.1A>G | c.1A>G | 2 | 2 |
| p.Leu538Pro | p.Leu538Pro | 2 | 2 |
| p.Asp615Glu | p.Asp615Glu | 1 | 1 |
| p.Phe754Ser | p.Phe754Ser | 1 | 1 |
| p.Arg926Trp | p.Arg926Trp | 1 | 1 |
| c.388C>T | c.388C>T | 1 | 1 |
| c.2660C>T | c.2660C>T | 1 | 1 |
| p.Pro887Leu | p.Pro887Leu | 1 | 1 |
| c.1278C>A | c.1278C>A | 1 | 1 |
| p.Tyr426* | p.Tyr426* | 1 | 1 |
| c.923G>T | c.923G>T | 1 | 1 |
| p.Gly308Val | p.Gly308Val | 1 | 1 |
| c.127G>A | c.127G>A | 1 | 1 |
| c.2605A>T | c.2605A>T | 1 | 1 |
| p.Lys869Ter | p.Lys869Ter | 1 | 1 |
| c.1168G>C | c.1168G>C | 1 | 1 |
| p.Gly390Arg | p.Gly390Arg | 1 | 1 |
| c.969G>A | c.969G>A | 1 | 1 |
| rs1801133 | rs1801133 | 1 | 1 |
| c.2402dupG | c.2402dupG | 1 | 1 |
| c.106G>T | c.106G>T | 1 | 1 |
| p.Glu36* | p.Glu36* | 1 | 1 |
| c.953G>A | c.953G>A | 1 | 1 |
| p.Arg318Gln | p.Arg318Gln | 1 | 1 |
| c.169_171del | c.169_171del | 1 | 1 |
| c.1602+1G>A | c.1602+1G>A | 1 | 1 |
| g.231408138G>A | g.231408138G>A | 1 | 1 |
| p.Ser672Leu | p.Ser672Leu | 1 | 1 |
| c.178T>C | c.178T>C | 1 | 1 |
| p.Tyr60His | p.Tyr60His | 1 | 1 |
| c.2288dup | c.2288dup | 1 | 1 |
| p.Ala102Glu | p.Ala102Glu | 1 | 1 |
| p.F28S | p.F28S | 1 | 1 |
| c.83T>C | c.83T>C | 1 | 1 |
| p.Phe28Ser | p.Phe28Ser | 1 | 1 |
| p.Q61L | p.Q61L | 1 | 1 |
| c.398_399delinsAA | c.398_399delinsAA | 1 | 1 |
| p.Gly133Glu | p.Gly133Glu | 1 | 1 |
| c.540del | c.540del | 1 | 1 |
| c.640del | c.640del | 1 | 1 |
| p.Leu62* | p.Leu62* | 1 | 1 |
| p.Gln323* | p.Gln323* | 1 | 1 |
| c.414-2_414-1del | c.414-2_414-1del | 1 | 1 |
| p.Tyr49Cys | p.Tyr49Cys | 1 | 1 |
| p.Leu370* | p.Leu370* | 1 | 1 |
| c.574-6_574-3del | c.574-6_574-3del | 1 | 1 |
| c.770_771del | c.770_771del | 1 | 1 |
Associated population records
Co-mentioned in the same publicationsSupporting publications
100 records- 2027WHO estimates of the global, regional, and national disease burden of nine foodborne chemicals, 2000-21: an updated data synthesis.The Lancet. Global health1 mentions
- 2026Ginkgolide as a Promising Multi-Target Therapeutic for Alzheimer's Disease: Targeting ApoE4 and Beyond.Current pharmaceutical design1 mentions
- 2026RETRACTED ARTICLE: Enhancing communication for people with hearing disabilities through robust sign language recognition using deep learning and the internet of things.Disability and rehabilitation. Assistive technology1 mentions
- 2026GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.Molecular psychiatry1 mentions
- 2026Homocystinuria: Advances in metabolic and molecular therapies targeting homocysteine pathways (Review).Molecular medicine reports1 mentions
- 2026The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.Brain : a journal of neurology1 mentions
- 2026Clinical and Genetic Spectrum of SCN8A-Related Disorders: A Retrospective Study From the Gulf Region.Journal of child neurology1 mentions
- 2026Validation of the Arabic version of the attitudes toward intellectual disability questionnaire (ATTID-AR).Research in developmental disabilities1 mentions
- 2026Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.American journal of human genetics1 mentions
- 2026Understanding Autism through the Eyes of Nurses: a Cross-Sectional Study.Brain and behavior1 mentions
- 2026Identification of Additional Cases of Severe Neonatal GABA-Transaminase Deficiency.JIMD reports1 mentions
- 2026Unveiling the Physiological Correlates of Cognitive Function in Healthy Adults: An In-Depth Investigation Using Optical Coherence Tomography (OCT).Journal of clinical medicine1 mentions
- 2026Predictors of cognitive impairment in drug-resistant epilepsy: the role of interictal EEG abnormalities.Acta epileptologica1 mentions
- 2026Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.American journal of human genetics1 mentions
- 2026Synaptic aging and neurodegeneration: the role of synaptic vesicle dynamics and neurotransmitter imbalance.Biogerontology1 mentions
- 2026Expanding the clinical and immunological phenotypes of COPB1 deficiency.Frontiers in immunology1 mentions
- 2026A novel homozygous CA5A gene deletion in carbonic anhydrase VA deficiency presenting as developmental delay without metabolic crisis.Molecular genetics and metabolism reports1 mentions
- 2026Adaptive systems for cognitive impairments: a systematic review of current trends and future directions.Disability and rehabilitation. Assistive technology1 mentions
- 2026Follow-up of health-related physical fitness elements in mild intellectual disability for three years: a sex comparison.PeerJ1 mentions
- 2026Video Modelling Intervention for Enhancing Social-Communication Skills of Children With Intellectual Disability.Journal of applied research in intellectual disabilities : JARID1 mentions
- 2026Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.American journal of medical genetics. Part A1 mentions
- 2026Diabetes Mellitus as an Integrated Microbiome, Immune, and Metabolic Disorder with Clinical Implications for Multisystem Complications and Public Health.Journal of clinical medicine1 mentions
- 2026Editorial: Rare genetic disorders associated with intellectual disability.Frontiers in psychiatry1 mentions
- 2026Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2026Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.Scientific reports1 mentions
- 2026Truncating Variants in KIF5C Cause a Milder Disorder Distinct From KIF5C-Associated Cortical Dysplasia.Pediatric neurology1 mentions
- 2026Further Evidence for LRRC7 Gene Involvement in Neurodevelopmental Disorder: A Novel Variant.The journal of gene medicine1 mentions
- 2026Neuropsychiatric Sequelae of COVID-19: A Systematic Review of Acute and Prolonged Effects.CNS & neurological disorders drug targets1 mentions
- 2026Unlocking the Mysteries: Stroke-like Episodes in Sturge-Weber Syndrome.Clinical medicine & research1 mentions
- 2026Disrupting PQBP1-eEF2 protein-protein interaction: From synaptic translation to immunity and cancer.Neurochemistry international1 mentions
- 2026Adult case of 17β-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency due to the p. Arg130Cys mutation of the HSD17B10 gene: case report.AME case reports1 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
- 2026Combating Cadmium-Induced Neurotoxicity, Oxidative Stress, and Inflammatory Pathways Using DOPA-31, a Dioxopiperidinamide Derivative in an In Vivo Zebrafish Model.Journal of biochemical and molecular toxicology1 mentions
- 2026FGF12-Related Early-Onset Epileptic Encephalopathies: Therapeutic Response to Sodium Channel Blockers.American journal of medical genetics. Part A1 mentions
- 2026Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction.HGG advances1 mentions
- 2026Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenic CDK5RAP2 and CIT variants.Molecular genetics and metabolism reports1 mentions
- 2026Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1.European journal of human genetics : EJHG1 mentions
- 2026Updated trends in the global prevalence and burden of mental disorders, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.Lancet (London, England)1 mentions
- 2026Targeted drug delivery of oxazolidine derivative AP9 using chitosan nanoparticles for neuroprotection in a BPA-induced zebrafish model.Journal of drug targeting1 mentions
- 2026Dental Management of Tatton-Brown-Rahman Syndrome: A Case Report.Case reports in dentistry1 mentions
- 2026Regulatory impact of intermittent fasting on autophagy in high fat diet induced structural and cognitive brain deteriorations in rats.Scientific reports1 mentions
- 2026Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.Clinical genetics1 mentions
- 2026Genome sequencing-based CNV analysis in an infant with concurrent partial trisomies 9p and 12p due to maternal translocation: A case report.Medicine1 mentions
- 2026Role of 5α-reductase inhibitors in Parkinson's disease: Gambling or not?The Journal of steroid biochemistry and molecular biology1 mentions
- 2026Molecular Pharmacology of T-Type Calcium Channels and Their Roles in Neurological Disorders.Medicinal research reviews1 mentions
- 2026Early-Onset Retinal Dystrophy in Alpha-Mannosidosis: A Case Report.Case reports in ophthalmology1 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
- 2026Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature.Clinical genetics1 mentions
- 2026Resveratrol alleviates neurological disorders and motor dysfunction in 3-NP induced- Huntington's Disease in rats: Role of activating AMPK/SIRT1/ULK1 autophagy pathway.Neuropharmacology1 mentions
- 2026Expanding the ABCA2-associated neurodevelopmental phenotype.HGG advances1 mentions
- 2026Impact of a Multi-Component Preventive Oral Health Program on Dental Plaque Scores for Individuals with Special Health Care Needs.Clinical, cosmetic and investigational dentistry1 mentions
- 2026Targeting PARP1-dependent parthanatos in Alzheimer's disease: Mechanisms and therapeutic opportunities.Life sciences1 mentions
- 2026Cerebrovascular and Bleeding Outcomes of Warfarin versus Direct Oral Anticoagulants Therapy for Atrial Fibrillation: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.Neurosciences (Riyadh, Saudi Arabia)1 mentions
- 2026Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.American journal of human genetics1 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
- 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
- 2025Promoting multistep requesting through systematic instruction and facilitated iPad-based intervention with children with intellectual disability.Disability and rehabilitation. Assistive technology1 mentions
- 2025Dentistry and Sturge-Weber syndrome: Case report and narrative review.Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry1 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
- 2025High penetrance and phenotypic landscape of methylenetetrahydrofolate reductase c.665 C>T polymorphism in the absence of folate fortification.Clinical nutrition ESPEN1 mentions
- 2025Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2025The correlation of intracranial parenchymal calcium score and the severity of neurological clinical presentation in carbonic anhydrase deficiency type 2.Brain & development1 mentions
- 2025Further delineation of the SCAF4-associated neurodevelopmental disorder.European journal of human genetics : EJHG1 mentions
- 2025Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience.JIMD reports1 mentions
- 2025CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs).Human genetics1 mentions
- 2025Fucosidosis: A Review of a Rare Disease.International journal of molecular sciences1 mentions
- 2025Trajectory of Cardiogenic Dementia: A New Perspective.Journal of cellular and molecular medicine1 mentions
- 2025Frailty determinants in heart failure: Inflammatory markers, cognitive impairment and psychosocial interaction.ESC heart failure1 mentions
- 2025Button Battery Ingestion in a Neonate: Risk, Management, and Implications.The American journal of case reports1 mentions
- 2025C12ORF57: a novel principal regulator of synaptic AMPA currents and excitatory neuronal homeostasis.bioRxiv : the preprint server for biology1 mentions
- 2025Neurotoxic effects of chronic exposure to perfluorobutane sulfonate in adult zebrafish (Danio Rerio).Comparative biochemistry and physiology. Toxicology & pharmacology : CBP1 mentions
- 2025Familial vs sporadic normal pressure hydrocephalus: a comparative study.Journal of neurology1 mentions
- 2025Identification of a Protein-truncating Variant in SCAPER Gene Causing Syndromic form of Intellectual Disability.Current medicinal chemistry1 mentions
- 2025Risk factors, clinical characteristics, and outcomes of perinatal stroke in a Tertiary University Hospital.Neurosciences (Riyadh, Saudi Arabia)1 mentions
- 2025Emphasizing complementary in "Investigating the complementary value of OCT to MRI in cognitive impairment in relapsing-remitting multiple sclerosis".Multiple sclerosis (Houndmills, Basingstoke, England)1 mentions
- 2025Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.American journal of human genetics1 mentions
- 2025Targeting of PP2 A/GSK3β/PTEN Axis in Alzheimer Disease: The Mooting Evidence, Divine, and Devil.Cellular and molecular neurobiology1 mentions
- 2025The possible role of neurogenesis activators in temporal lobe epilepsy: State of art and future perspective.European journal of pharmacology1 mentions
- 2025Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.American journal of human genetics1 mentions
- 2025Automatic smart brain tumor classification and prediction system using deep learning.Scientific reports1 mentions
- 2025Incidence and risk factors of ocular complications among patients with homocystinuria in Saudi Arabia: a cross-sectional study.Annals of medicine and surgery (2012)1 mentions
- 2025The effect of mindfulness training on improving attention and executive function in children with mild to borderline intellectual disability.Applied neuropsychology. Child1 mentions
- 2025Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.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
- 2025A comprehensive spatiotemporal map of dystrophin isoform expression in the developing and adult human brain.Acta neuropathologica communications1 mentions
- 2025Cognitive function and retinal biomarkers as novel approach to diagnosing and assessing autism spectrum disorder.Scientific reports1 mentions
- 2025Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway.Brain : a journal of neurology1 mentions
- 2025HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.Annals of neurology1 mentions
- 2025Prevalence and predictors of co-occurring functional seizure in patients with epilepsy at a tertiary care center in Makkah.Annals of Saudi medicine1 mentions
- 2025Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.Movement disorders : official journal of the Movement Disorder Society1 mentions
- 2025Ferroptosis and its contribution to cognitive impairment in Alzheimer's disease: mechanisms and therapeutic potential.Brain research1 mentions
- 2025Comprehensive framework for thyroid disorder diagnosis: Integrating advanced feature selection, genetic algorithms, and machine learning for enhanced accuracy and other performance matrices.PloS one1 mentions
- 2025The potential role of aryl hydrocarbon receptor in Alzheimer's disease: Protective or detrimental.Ageing research reviews1 mentions
- 2025Gut Microbiome, Neuroinflammation, and Fetal Alcohol Spectrum Disorders: Insights from Rodent Models.Biology1 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
- 2025Evaluation of the quality of life in individuals with intellectual disabilities: Challenges and influencing factors.Research in developmental disabilities1 mentions
- 2025Integration of Ti3C2Tx MXene in the selection of DNA aptamers for FMRP for the diagnosis of fragile X syndrome.International journal of biological macromolecules1 mentions
- 2025MDNCT: a multi-domain neurocognitive transformer architecture approach for early prediction of autism spectrum disorders.Scientific reports1 mentions
- 2025Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases.Molecular genetics and metabolism1 mentions
- 2025Mutation of NDUFAF2 Linked to Mitochondrial Complex I Deficiency.Cureus1 mentions