developmental delay
HP:0001263 · SaudiVarKB evidence summary derived from retained literature mentions.
480Phenotype mentions
100Publications
50Associated gene records
50Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| ALDH7A1 | HGNC:877 | 4 | 4 |
| SERAC1 | HGNC:21061 | 4 | 4 |
| KMT2D | HGNC:7133 | 3 | 3 |
| KCNJ11 | HGNC:6257 | 3 | 3 |
| LGI1 | HGNC:6572 | 3 | 3 |
| SLC13A5 | HGNC:23089 | 3 | 3 |
| WWOX | HGNC:12799 | 3 | 3 |
| ATP8A2 | HGNC:13533 | 3 | 3 |
| ASNS | HGNC:753 | 3 | 3 |
| C12orf57 | HGNC:29521 | 3 | 3 |
| ABCC8 | HGNC:59 | 3 | 3 |
| DENND5A | HGNC:19344 | 3 | 3 |
| UGDH | HGNC:12525 | 3 | 3 |
| ALKBH8 | HGNC:25189 | 3 | 3 |
| SLC18A2 | HGNC:10935 | 2 | 2 |
| IFT140 | HGNC:29077 | 2 | 2 |
| ALDH3A2 | HGNC:403 | 2 | 2 |
| UNC79 | HGNC:19966 | 2 | 2 |
| UNC80 | HGNC:26582 | 2 | 2 |
| NALCN | HGNC:19082 | 2 | 2 |
| IFIH1 | HGNC:18873 | 2 | 2 |
| EPG5 | HGNC:29331 | 2 | 2 |
| PI4K2A | HGNC:30031 | 2 | 2 |
| GLIS3 | HGNC:28510 | 2 | 2 |
| TRMT1 | HGNC:25980 | 2 | 2 |
| ARID1B | HGNC:18040 | 2 | 2 |
| CA2 | HGNC:1373 | 2 | 2 |
| ASPM | HGNC:19048 | 2 | 2 |
| BTD | HGNC:1122 | 2 | 2 |
| PPP1R21 | HGNC:30595 | 2 | 2 |
| FBXL4 | HGNC:13601 | 2 | 2 |
| AP4M1 | HGNC:574 | 2 | 2 |
| PGAP3 | HGNC:23719 | 2 | 2 |
| DNM1 | HGNC:2972 | 2 | 2 |
| TRAPPC9 | HGNC:30832 | 2 | 2 |
| PPFIBP1 | HGNC:9249 | 2 | 2 |
| FRA10AC1 | HGNC:1162 | 2 | 2 |
| ADAM22 | HGNC:201 | 2 | 2 |
| ATN1 | HGNC:3033 | 2 | 2 |
| KMT2A | HGNC:7132 | 2 | 2 |
| GRM7 | HGNC:4599 | 2 | 2 |
| PGAP2 | HGNC:17893 | 2 | 2 |
| EMC10 | HGNC:27609 | 2 | 2 |
| EMC1 | HGNC:28957 | 2 | 2 |
| TMEM94 | HGNC:28983 | 2 | 2 |
| GPI | HGNC:4458 | 2 | 2 |
| FRA16D | HGNC:3860 | 2 | 2 |
| RNASEH2A | HGNC:18518 | 2 | 2 |
| RNASEH2C | HGNC:24116 | 2 | 2 |
| ATP1A3 | HGNC:801 | 2 | 2 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| c.1A>G | c.1A>G | 2 | 2 |
| p.Leu538Pro | p.Leu538Pro | 2 | 2 |
| c.155_166del | c.155_166del | 1 | 1 |
| 2T>C | 2T>C | 1 | 1 |
| c.388C>T | c.388C>T | 1 | 1 |
| p.Arg228Cys | p.Arg228Cys | 1 | 1 |
| C682T | C682T | 1 | 1 |
| 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.2887G>A | c.2887G>A | 1 | 1 |
| p.Gly963Arg | p.Gly963Arg | 1 | 1 |
| c.966+3A>G | c.966+3A>G | 1 | 1 |
| c.886+1219T>G | c.886+1219T>G | 1 | 1 |
| c.923G>T | c.923G>T | 1 | 1 |
| p.Gly308Val | p.Gly308Val | 1 | 1 |
| p.Phe216Leu | p.Phe216Leu | 1 | 1 |
| p.Thr180Asn | p.Thr180Asn | 1 | 1 |
| p.Val440Leu | p.Val440Leu | 1 | 1 |
| p.Ser498Leu | p.Ser498Leu | 1 | 1 |
| p.Cys453Trp | p.Cys453Trp | 1 | 1 |
| c.1168G>C | c.1168G>C | 1 | 1 |
| p.Gly390Arg | p.Gly390Arg | 1 | 1 |
| rs1801133 | rs1801133 | 1 | 1 |
| c.1990G>A | c.1990G>A | 1 | 1 |
| p.Glu664Lys | p.Glu664Lys | 1 | 1 |
| c.567_570del | c.567_570del | 1 | 1 |
| c.1327C>T | c.1327C>T | 1 | 1 |
| p.Arg443* | p.Arg443* | 1 | 1 |
| c.422dup | c.422dup | 1 | 1 |
| p.Leu100Phe | p.Leu100Phe | 1 | 1 |
| p.R664* | p.R664* | 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 |
| p.Asn248Phe | p.Asn248Phe | 1 | 1 |
| c.842C>T | c.842C>T | 1 | 1 |
| p.Ala281Val | p.Ala281Val | 1 | 1 |
| c.178T>C | c.178T>C | 1 | 1 |
| p.Tyr60His | p.Tyr60His | 1 | 1 |
| p.Pro387Leu | p.Pro387Leu | 1 | 1 |
| p.Pro237His | p.Pro237His | 1 | 1 |
| p.Ile43Phe | p.Ile43Phe | 1 | 1 |
| p.Lys166* | p.Lys166* | 1 | 1 |
| p.Ala102Glu | p.Ala102Glu | 1 | 1 |
| c.159del | c.159del | 1 | 1 |
| c.6854_6855del | c.6854_6855del | 1 | 1 |
| c.2T>C | c.2T>C | 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
- 2026Severe food protein-induced enterocolitis syndrome with seizures and concern for developmental delay: A case report.Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology1 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
- 2026Bilateral congenital glaucoma in a child with Nicolaides-Baraitser syndrome: a case report.Annals of medicine and surgery (2012)1 mentions
- 2026Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.American journal of human genetics1 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
- 2026Autism Spectrum Disorder and Long-Term Survival in Attenuated Molybdenum Cofactor Deficiency Type A: A Case Report From Saudi Arabia.Cureus1 mentions
- 2026Expanding the clinical and immunological phenotypes of COPB1 deficiency.Frontiers in immunology1 mentions
- 2026WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy.Clinical genetics1 mentions
- 2026Variants in MTNAP1 underlie a neurodegenerative disorder by impairing mitochondrial stability.NPJ genomic medicine1 mentions
- 2026Clinical Presentation of Agenesis of Corpus Callosum Among Children in a Single Tertiary Care Center in Riyadh, Saudi Arabia.Cureus1 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
- 2026A Novel ATXN7L3 De Novo Variant Underlies Harel-Tora Neurodevelopmental Syndrome (HATONS) With Pre-Axial Polydactyly.Clinical genetics1 mentions
- 2026Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.HGG advances1 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
- 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
- 2026Mutation mapping and functional characterization of a missense mutation p.Arg228Cys in ALDH3A2 gene causing Sjögran-Larson syndrome.Molecular biology reports1 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
- 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
- 2026Clinical and genetic profile of achondroplasia: a descriptive study from a tertiary care center in Saudi Arabia.BMC pediatrics1 mentions
- 2026POLG-related disorders: Clinical and molecular Spectrum in the Saudi population.Molecular genetics and metabolism reports1 mentions
- 2026Case Report: Two siblings with a novel homozygous SLC18A2 variant causing parkinsonism-dystonia-2: a case series from Saudi Arabia.Frontiers in 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
- 2026Comprehensive Analysis of Disease Spectrum and Mortality in Sanjad-Sakati Syndrome: An International Rare Disease Registry Study.The Journal of clinical endocrinology and metabolism1 mentions
- 2026AUTS2 Gene Variant Causing Intellectual Developmental Disorder, Autosomal Dominant 26 (MRD26): A Report of a Paediatric Case From the Arabian Peninsula.Cureus1 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
- 2026RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.Genetics in medicine : official journal of the American College of Medical Genetics1 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
- 2025CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia.American journal of medical genetics. Part A1 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
- 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
- 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
- 2025Management and outcomes among older adults with generalized epilepsy in routine clinical practice.Epilepsia open1 mentions
- 2025EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.American journal of human genetics1 mentions
- 2025Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome).Genetics and molecular biology1 mentions
- 2025Understanding Parental Perspectives on Childhood Hearing Impairment and Timely Interventions.Cureus1 mentions
- 2025De Novo Deletion in the 12q24.23q24.31 Chromosomal Region Causing a Neurodevelopmental Syndrome in a Female Saudi Patient: A Case Report.Cureus1 mentions
- 2025Dyggve-Melchior-Clausen Syndrome With Celiac Disease: A Rare Entity.Cureus1 mentions
- 2025Biotinidase Deficiency: Report of a Tunisian Case With Neuromyelitis Optica-Like Presentation and Review of the Literature.Case reports in neurological medicine1 mentions
- 2025Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.American journal of human genetics1 mentions
- 2025Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.American journal of human genetics1 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
- 2025A Novel TAF1C Missense Variant Causes Neurodevelopmental Regression via Disrupted Nucleolar Localization and Nucleoplasmic Aggregation.Clinical genetics1 mentions
- 2025Impact of Ventilation Tubes on Pediatric Otitis Media Outcomes: A Retrospective Study From Saudi Arabia.Cureus1 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
- 2025Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.Movement disorders : official journal of the Movement Disorder Society1 mentions
- 2025A Report of a Child with SEC31A-Related Neurodevelopmental Disorder.International journal of molecular sciences1 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
- 2025Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis.Movement disorders : official journal of the Movement Disorder Society1 mentions
- 2025Hyperinsulinism-hyperammonemia syndrome associated with GLUD1 gene mutation: a case series.Journal of medical case reports1 mentions
- 2025Prevalence of Language Delay in Children Under Five Years of Age in Taif, Saudi Arabia.Cureus1 mentions
- 2025Pathogenic TRIM74 Mutation Disrupts Protein Homeostasis and Triggers Proteotoxic Neurodegeneration via Structural Destabilization.ACS chemical neuroscience1 mentions
- 2025SHQ1-related hypomyelinating leukodystrophy: A case report with imaging features and a homozygous variant.Radiology case reports1 mentions
- 2025A Novel Variant of ARID1B-Related Coffin-Siris Syndrome in a Saudi Girl: A Case Report.Cureus1 mentions
- 2025Clinical and Molecular Characterizations of Mitochondrial Disorders: A Tertiary-Care Center Experience.Children (Basel, Switzerland)1 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
- 2025Neonatal diabetes mellitus is a significant feature of COXPD-24 caused by recessive NARS2 variants.Diabetic medicine : a journal of the British Diabetic Association1 mentions
- 2025Case Report of Salmonella and HHV-6 Meningitis in an Infant.Pediatric reports1 mentions
- 2025Severe Hepatic Injury Due to Dengue Fever Without Warning Signs in a Patient With Intellectual Disability: A Case Report.Cureus1 mentions
- 2025Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.Nature genetics1 mentions
- 2025Multidisciplinary management of nasal and lacrimal drainage disorders in ectrodactyly-ectodermal dysplasia-clefting syndrome.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2025Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy.The American journal of case reports1 mentions
- 2025Dental Management of a Child With Temtamy Syndrome: A Case Report.Cureus1 mentions
- 2025Webb-Dattani syndrome in a 17-year-old girl.Endocrinology, diabetes & metabolism case reports1 mentions
- 2025Tatton-Brown-Rahman Syndrome Due to a Novel DNMT3A Variant Presenting With Autism, Attention-Deficit/Hyperactivity Disorder (ADHD), and Regression: A Saudi Case Report.Cureus1 mentions
- 2025Bruton's Agammaglobulinemia: Case Series and Literature Review From King Fahad Central Hospital, Jizan, Saudi Arabia.The American journal of case reports1 mentions
- 2025Clinical Utility of Whole-Exome Sequencing in a Consanguineous Family with UNC80-related Neurodevelopmental Disorder: A Case Series and Review of the Literature.Cureus1 mentions
- 2025Case Report: Hyperprolinemia type II in a child with autism spectrum disorder and ALDH4A1 gene variant in a consanguineous family.Frontiers in pediatrics1 mentions
- 2025Effectiveness of Early Intervention Programs for Young Children with Global Developmental Delay: A Systematic Review :Galen medical journal1 mentions
- 2024Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy.American journal of medical genetics. Part A1 mentions
- 2024TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.Brain : a journal of neurology1 mentions
- 2024Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.The journal of gene medicine1 mentions
- 2024"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".Molecular genetics & genomic medicine1 mentions
- 2024Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.The Journal of clinical investigation1 mentions
- 2024Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.Brain : a journal of neurology1 mentions
- 2024Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2024Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy.Pediatric neurology1 mentions
- 2024Developmental epileptic encephalopathy in DLG4-related synaptopathy.Epilepsia1 mentions
- 2024Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.Brain : a journal of neurology1 mentions
- 2024Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.EBioMedicine1 mentions
- 2024Vagus nerve stimulation in medically refractory epilepsy: Adverse effects and clinical correlates.Neurosciences (Riyadh, Saudi Arabia)1 mentions
- 2024KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.Epilepsia1 mentions
- 2024Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis.Genes & genomics1 mentions
- 2024Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism.Human genetics1 mentions
- 2024Carbonic Anhydrase II Deficiency: Unusual Presentation of the Arabic Mutation. A Case Report.Global pediatric health1 mentions
- 2024Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.medRxiv : the preprint server for health sciences1 mentions
- 2024Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.Clinical genetics1 mentions
- 2024Clinical and molecular characterization of patients with YWHAG-related epilepsy.Epilepsia1 mentions
- 2024A missense variant in the PACS2 gene cause Epileptic Encephalopathy and seizures in Saudi family.Pakistan journal of medical sciences1 mentions
- 2024Incidental Finding of MEGDEL Syndrome at a Tertiary Care Center in Saudi Arabia.Cureus1 mentions
- 2024Splice site recognition - deciphering Exon-Intron transitions for genetic insights using Enhanced integrated Block-Level gated LSTM model.Gene1 mentions