Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).

Clinical and molecular findings in Cornelia de Lange syndrome. Case series.

Identification of an emerging heterozygous variant in KAT6A by whole exome sequencing: a case report.

De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities.

Child Neurology: Multiple Genetic Etiologies Causing Dandy-Walker Variant With Microcephaly, Epilepsy, and Global Developmental Delay.

CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections.

Navigating challenges: a child with Apert syndrome and global developmental delay from a low-income family.

Case Report: A female case of X-linked intellectual disability syndrome type 34 caused by a NONO frameshift variant and literature review.

Prioritizing topics for a clinical practice guideline on SATB2-associated syndrome: methodological rigor vs clinical usability.

First Report of a Child With a DeSanto-Shinawi Syndrome and a Polymorphous Low-Grade Neuroepithelial Tumor of the Young.

Börjeson-Forssman-Lehmann Syndrome in a Pediatric Patient: A Four-Year Longitudinal Case Report Focused on Functional Evolution and Rehabilitation.

A novel NMD-escaping STAG2 variant associated with syndromic neurodevelopmental delay, growth failure, and distinctive dysmorphism: expanding the phenotype in male patients and literature review.

Longitudinal Behavior Phenotype Hallmarks in RNU4-2 Syndrome: Implications for Clinical Management.

Expanding the clinical and immunological phenotypes of COPB1 deficiency.

Clinical and molecular profiles of patients with Xia-Gibbs syndrome: a cohort in Japan.

Neuropsychological findings in a young adult with congenital bilateral perisylvian syndrome: A case report.

[Analysis of a child with You-Hoover-Fong syndrome due to compound heterozygous variants of the TELO2 gene and a literature review].

Concurrent 12p trisomy and 4q34.2-q35.2 deletion detected by WES-CNV: Case report.

The Role of Pyridoxine Treatment for Seizures in Patients with PGAP3-Congenital Disorders of Glycosylation.

Beyond Neurodevelopmental Delay: BICRA-Related Coffin-Siris Syndrome 12 with Severe Intestinal Dysmotility and Recurrent Pneumothorax.

Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling.

A Rare Co-occurrence of Duchenne Muscular Dystrophy and Glycerol Kinase Deficiency Associated With Xp21 Contiguous Gene Deletion Syndrome: A Case Report.

Prenatal Diagnosis of Radio-Tartaglia Syndrome Caused by a Loss-of-Function Variant in SPEN in a Chinese Family.

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Generation of a male isogenic pair and a female isogenic pair(R83C) for studying NAA10-related syndrome as part of a large Ogden syndrome biobank.

The global research hotspots and future trends of infantile epileptic spasms syndrome: A bibliometric analysis of trends and themes.

Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings.

Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities.

Risperidone-Induced Paradoxical Agitation in a Child With Lamb-Shaffer Syndrome, Autism Spectrum Disorder, and Attention Deficit Hyperactivity Disorder: A Case Report.

Epilepsy with myoclonic-atonic seizures: genetic aetiologies, outcomes and prognostic indicators.

Online Remote Behavioural Intervention for Tics (ORBIT-UK): protocol of a single cohort usability study.

Case report and literature review of neurodevelopmental syndrome linked to DOT1L variants.

Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.

KDM2B-Related Neurodevelopmental Disorder A Case-Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features.

Improving variant interpretation and diagnosis in Koolen-de Vries syndrome through a curated genotype-phenotype repository.

Infantile-Onset Unverricht-Lundborg Disease: A Unique Case With Severe Neurological Impairment and Positive Family History.

A Case Report of PLXNA1-Related Dworschak-Punetha Neurodevelopmental Disorder With Pachygyria and Polymicrogyria.

Neurobehavioral Profiles and Clinical Consequences of MYT1L-Related Neurodevelopmental Disorder: Insights from the Brain Gene Registry.

Novel KDM3B Variants in Two Chinese Patients With Global Developmental Delay and Autism.

Sexual Health and Transition Needs in an Adolescent Girl With Attention-deficit Hyperactivity Disorder and Smith-magenis Syndrome.

Tatton-Brown-Rahman Syndrome Due to a Novel DNMT3A Variant Presenting With Autism, Attention-Deficit/Hyperactivity Disorder (ADHD), and Regression: A Saudi Case Report.

Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience.

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.

A Case Report: Identification of a Pathogenic Microdeletion at Chromosome 21q21.3q22.13 Using Whole-Exome Sequencing and CNV Analysis in a Moroccan Child with Global Developmental Delay.

From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver Syndrome.

A novel de novo missense variant in ASH1L associated with mild autism spectrum disorder and an uneven cognitive profile: a case report.

Case Report: Co-occurring de novo SHANK3 and SRCAP variants in a patient with autoimmune encephalitis and exhibiting Phelan-McDermid syndrome features.

Nutrition Practices Reported by Families of Children with Down Syndrome, Autism, and Without an Intellectual or Developmental Disability.

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Cognitive stagnation and executive function deficits in young children with SCN1A+ Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history study.

[Neuropsychological development status and risk factors in small for gestational age infants at corrected ages 12-24 months].

Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder.

Two Chinese patients with Basilicata-Akhtar syndrome caused by novel MSL3 variants: a case report and literature review.

Neurodevelopmental Profile of a Child With X-linked MSL3 Syndrome.

Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case.

EPG5-Related Disorders in Seven New Patients: Refining the Phenotypic Spectrum and Insights on Phenotype-Genotype Correlations.

Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).

Two case reports and a literature review of hyperphosphatasia with intellectual disability syndrome 2 caused by a PIGO mutation.

A Novel Mouse Model for Developmental and Epileptic Encephalopathy by Purkinje Cell-Specific Deletion of Scn1b.

Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review.

Healthcare access satisfaction before and during the COVID-19 pandemic among Peruvian children with down syndrome.

A Case Report: Co-Occurrence of TNRC6B Gene Variant and Xq28 Microdeletion Syndrome With Comprehensive Literature Review.

Neuro-developmental outcomes in infants with vitamin B12-deficiency and neurologic features.

ITCH Deficiency Causing Immunodeficiency and Immune Dysregulation.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

FRAXE-associated intellectual disability: clinical and molecular insights into an underdiagnosed condition.

A novel missense variant at the site of interaction between RLIM and E2 ubiquitin-conjugating enzymes causes Tønne-Kalscheuer syndrome.

A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum.

Multiple phenotypic traits including developmental impairment in a Chinese family with infantile convulsion and choreoathetosis syndrome: a case study expanding the clinical spectrum of prrt2-related syndrome.

The hidden in plain sight: global, regional, and national trends in the pediatric burden of Klinefelter syndrome, 1990-2021.

Novel ATP7A Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review.

Optimal stimulation of the thalamic centromedian nucleus in children with Lennox-Gastaut syndrome: patient series.

Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variants.

The deficiency of DIP2C leads to congenital heart defects in patients with 10p15.3 microdeletion syndrome.

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

A Genetically Confirmed Case of ATR-X Syndrome Without Alpha-Thalassemia: First Case Reported From Jordan.

Speech and Language Development of Two Brothers With Bainbridge-Ropers Syndrome: Phenotypic and Bioinformatic Support for a Cerebellar ASXL3 Hypothesis.

CRELD1-Associated Neurodevelopmental Disorder: Three New Individuals from Unrelated Families.

A Case of Infantile Epileptic Spasms Syndrome with the SPTBN1 Mutation and Review of βII-Spectrin Variants.

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.

Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report.

A Novel Variant of ARID1B-Related Coffin-Siris Syndrome in a Saudi Girl: A Case Report.

Dominant-negative effects of Weaver syndrome-associated EZH2 variants.

Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India.

Clinical and genetic characterization of Lenz-Majewski syndrome with a PTDSS1 variant: a case report and literature review.

WDR26-related Skraban-Deardorff syndrome: clinical, genetic and pathomechanistic insights.

State Decision-Making Approaches in Seriously Ill People With Intellectual/Developmental Disability.

Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian Family.

Sporadic Dup15q Syndrome Presenting With Developmental Delay, Intellectual Disability, Attention-Deficit/Hyperactivity Disorder, and Epilepsy: A Case Report.

Case Report: First report of a Wilms tumor in an individual with Dias-Logan syndrome (BCL11A-related intellectual disability).

Missense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability.

[Chitayat syndrome due to variant of ERF gene: A case report and literature review].

The Diagnostic and Therapeutic Challenges of Schaaf-Yang Syndrome: A Brazilian Case Report.

Case report of paroxysmal dystonia in a child with KBG syndrome: Expansion of the phenotype and utility of whole exome sequencing.

Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two Siblings.

Clinician-Based Functional Scoring and Genomic Insights for Prognostic Stratification in Wolf-Hirschhorn Syndrome.

A Comparison of Developmental Profiles of Preschool Children with Down Syndrome, Global Developmental Delay, and Developmental Language Disorder.

AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation.

Identification of variants in SWI/SNF complex genes associated with neurodevelopmental disorders.

OCNDS core features are conserved across variants, with loop-region mutations driving greater symptom burden.

FBRSL1 regulates the expression of chromatin regulators BRPF1 and KAT6A.

Unraveling the Genomic Architecture of Supernumerary (Iso-)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature-Based Study.

A Proposal for Neurocognitive Assessment in Spanish-Speaking Adults With Phelan-McDermid Syndrome: A Case Report.

Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders.

Population-based assessment of neurodevelopmental and mental health diagnoses among pediatric patients with Turner Syndrome: A PEDSnet study.

Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome.

Phenotypic Heterogeneity of 16p11.2 Microdeletion Syndrome: 5 Case Reports.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

School-based mental health and psychosocial support interventions for children and adolescents with developmental disabilities in low- and middle-income countries: A systematic review.

[Clinical features and genetic analysis of a child with Christianson syndrome due to variant of SLC9A6 gene].

A Clinical Study of Nine Patients With ReNU Syndrome.

Dynamic electro-clinical features in Guanidinoacetate N-methyltransferase deficiency: A familial case series.

Prediction of amyloid and tau brain deposition and cognitive decline in people with Down syndrome using plasma biomarkers: a longitudinal cohort study.

First Report of a Novel ZNF462 Variant Linked to Weiss-Kruszka Syndrome and Congenital Diaphragmatic Hernia: Insights into Potential Additional Malformations.

A Report of a Child with SEC31A-Related Neurodevelopmental Disorder.

Knockout of bcas3 gene causes neurodevelopment defects in zebrafish.

The history of Down syndrome-associated Alzheimer's disease; past, present, and future.

Fragile X syndrome: genetic and clinical profile in the Hong Kong Chinese population.

Development of the Affiliate Stigma Scale for parents of children with genetic conditions.

Costs of Underfunding Brain Development.

Hexasomy of the 15q11q13 region: a detailed report and review of the literature.

Impact of Genetic Testing Using Gene Panels, Exomes, and Genome Sequencing in Romanian Children with Epilepsy.

Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports.

A Novel EP300 Variant in an African American Girl With Global Developmental Delay and Leukemia.

Penetrance of Neurodevelopmental Copy Number Variants Is Associated With Variations in Cortical Morphology.

RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity.

Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review.

Globally Reduced Brain Volume in Rett Syndrome.

Cell-type specific global reprogramming of the transcriptome and epigenome in induced neurons with the 16p11.2 neuropsychiatric CNVs.

Characteristics of Early Language Development in Children With Williams Syndrome.

The phenotypic spectrum of individuals with SLC16A2 variants in MCT8 deficiency.

[Advances in the study of signaling pathways in Global developmental delay /Intellectual disability combined with congenital craniofacial malformation].

Novel WAC gene variant identified in the first documented case of DeSanto-Shinawi Syndrome in India.

Efficacy of Stiripentol Beyond Dravet Syndrome: A Retrospective Medical Record Review of Patients with Drug-Resistant Epilepsies.

Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A.

Zmynd11 is essential for neurogenesis by coordinating H3K36me3 modification of Epha2 and PI3K signaling pathway.

Neurodevelopmental disorders at Chris Hani Baragwanath Academic Hospital: a 4-year retrospective database review.

Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome.

Genome Sequencing of Idiopathic Speech Delay.

Prevalence of fragile X syndrome in South Asia, and importance of diagnosis.

Life Satisfaction, Global Health and Mood in Prader-Willi Syndrome: Use of PROMIS and Glasgow Depression Scales.

Roll call: Why the child and adolescent mental health sector must be present for severe school refusal.

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation.

RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.

Diagnostic Utility of Next-Generation Sequencing-based CNV Analysis in Eleven Patients with Peters-Plus Syndrome: A Single-Center Experience.

Novel Compound Heterozygous Variants in ZNF526 Causing Dentici-Novelli Neurodevelopmental Syndrome: A Case Report and Literature Review.

P253 Next-generation phenotyping facilitates the identification of structural brain malformations in rare disorders through computational brain MRI analysis.

Gaze behavior in infancy associates with developmental outcome at the age of two years in early-onset epilepsies.

A New EP300 -Related Syndrome With Prominent Developmental and Immune Phenotypes.

Phenotypic Manifestations of a New Variant in HDAC4 Gene.

Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures.

Recognising the neurological burden of onchocerciasis: the need to include onchocerciasis-associated epilepsy in onchocerciasis global health metrics.

Case Report: Gingival Hyperplasia and Scoliosis as Additional Features of EMC10-Related Neurodevelopmental Disorder.

Identification of a Protein-truncating Variant in SCAPER Gene Causing Syndromic form of Intellectual Disability.

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real-world study.

Primitive reflexes in infants with cerebral palsy due to Congenital Zika Syndrome and its relationship with other motor features.

MBOAT7 encephalopathy: Characterizing the neurology and epileptology.

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.

The gain-of-function UBE3AQ588E variant causes Angelman-like neurodevelopmental phenotypes in mice.

Adolescents and adults with FOXP1 syndrome show high rates of anxiety and externalizing behaviors but not psychiatric decompensation or skill loss.

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

Facial characteristics description and classification based on 3D images of Fragile X syndrome in a retrospective cohort of young Chinese males.

De Novo Deletion in the 12q24.23q24.31 Chromosomal Region Causing a Neurodevelopmental Syndrome in a Female Saudi Patient: A Case Report.

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.

16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome.

Development and refinement of the Clinical Global Impression of Improvement for Non-seizure Symptoms measure in Dravet syndrome and Lennox-Gastaut syndrome.

Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications.

Comprehensive review and outline of genotypes and phenotypes of Arboleda-Tham syndrome spectrum: insights from novel variants.

Clinical Insights Into Nabais Sá-De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features.

A Dual Diagnosis of Okur-Chung Neurodevelopmental Syndrome and Becker Muscular Dystrophy: Inquiry Into the Lower Limits of Neurodevelopmental Functioning Attributable to Muscular Dystrophy.

Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination.

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.

Integrated gene expression and alternative splicing analysis in human and mouse models of Rett syndrome.

Rethinking speech sound disorder (SSD) in non-syndromic cleft lip and palate: The importance of recognizing phonological and language difficulties.

Rare DDX3X Gene Mutation in a Male Newborn With Super-refractory Status Epilepticus Responding to Lacosamide Drug Therapy.

Broadening the clinical spectrum of White-Sutton syndrome, implications for co-morbidity with celiac disease in a patient with a novel likely pathogenic variant in the POGZ gene.

NRXN2 Homozygous Variant Identified in a Family with Global Developmental Delay, Severe Intellectual Disability, EEG Abnormalities and Speech Delay: A new Syndrome?

Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.

Unusual Causes of Death Due to Constipation.

Sleep complaints in individuals with SYNGAP1-associated syndrome.

Comparative profiling of white matter development in the human and mouse brain reveals volumetric deficits and delayed myelination in Angelman syndrome.

A novel frameshift mutation in ADCK1 identified in a case of chronic fatigue syndrome successfully treated with oral 5-ALA/SFC.

Genetic analysis of partial duplication of the long arm of chromosome 16.

CHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus.

Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort.

Aberrant brain structural-functional coupling and structural/functional network topology explain developmental delays in pediatric Prader-Willi syndrome.

Expansion of the Phenotype of You-Hoover-Fong Syndrome and Possible Increased Risk of Cancer.

The correlation of intracranial parenchymal calcium score and the severity of neurological clinical presentation in carbonic anhydrase deficiency type 2.

Patterns of Medication for Opioid Use Disorder During Pregnancy, 7 Clinical Sites, MATernaL and Infant clinical NetworK (MAT-LINK), 2014-2021.

Exploring the Clinical Spectrum of HUWE1 -Related Neurodevelopmental Disorder: Five New Patients and Literature Review.

Clinical characteristics of patients with P4HTM variant-associated epilepsy and therapeutic exploration: a case report and literature review.

15q24 Duplication: A Case Report of Neurodevelopmental Delay.

BRCC3 -Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing.

Insights From a Novel Splicing Variant and Recurrent Arginine Variants in the CHD3 Gene Causing Snijders Blok-Campeau Syndrome.

Desipramine reverses remote memory deficits by activating calmodulin-CaMKII pathway in a UTX knockout mouse model of Kabuki syndrome.

Report of DeSanto-Shinawi Syndrome in Three Boys With Two Novel Variants in the WAC Gene and Expansion of the Phenotype.