Etiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a KCNK9 Variant.

A New Patient With SPOUT1-Related Neurodevelopmental Disorder Identified by Genomic Data Re-Analysis: Novel Phenotypic Features and Literature Review.

OTUD5-related rare X-linked multiple congenital anomalies and neurodevelopmental syndrome: clinical findings and review of the literature.

Congenital Ocular Motor Apraxia as the First Sign of Joubert Syndrome: A Case Report.

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.

Organ-Specific Histopathological Effects of Prenatal Alcohol Exposure: A Narrative Review.

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

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.

Comprehensive Clinical, Diagnostic, and In Silico Assessment of a Novel 1p36.33p36.32 Copy Number Variant.

De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder.

Neuronal Heterotopy in a Patient with Wiedemann-Steiner Syndrome Caused by a Truncating KMT2A Variant: Clinical and Genetic Correlations.

Fetal Rapid Eye Movement Sleep Dysfunction as a Potential Early Indicator for NALCN-Related CLIFAHDD Syndrome: A Case Report.

A novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report.

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice.

A Novel PTEN Frameshift Variant in a Child With Autism Spectrum Disorder and Macrocephaly: A Case Report.

Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature.

The impact of maternal flavivirus infections on fetal neurological outcomes: a scoping review.

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

A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome.

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

Intellectual Developmental Disorder of Autosomal Dominant 61 Caused by a MED13 Variant Presenting With Congenital Unilateral Sensorineural Hearing Loss: A Case Report.

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.

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.

Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.

Clinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese Patients.

Whole exome sequencing facilitates early neurodevelopmental diagnosis in an outpatient clinic.

White-Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects.

Pregabalin in Pregnancy: Major Congenital Malformations, Other Birth Outcomes, and Neurodevelopmental Outcomes.

Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years.

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons.

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

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

A pediatric case of diphthamide biosynthesis 1 gene defect presenting with developmental delay, short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome): a case report.

P10 Treatment-refractory psoriasiform dermatitis resulting from a rare genetic alteration in MSMO1 with marked improvement with combined cholesterol and statin use.

Genetic Etiology of Infantile Spasms in Peruvian Children: A Multicenter Study.

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

Nephrocalcinosis in a Child with Sotos Syndrome: A Case Report of Contiguous Gene Syndrome Encompassing NSD1 and SLC34A1 Genes.

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

Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature.

Jacobsen Syndrome With White Matter Abnormalities: A Case Report and MRI Follow-Up.

De novo truncating variant in the FBRSL1 gene caused neurodevelopmental disorders, epilepsy, congenital heart disease, and facial dysmorphism.

A TRIM8 Variant in a Child: Neuro-Renal Syndrome Causing Features Suggestive of Medullary Sponge Kidney.

Prenatal diagnosis of a de novo pathogenic HNRNPK variant in a Chinese fetus with abnormal ultrasound soft markers: a case report.

Novel Airway Challenges in DEGCAGS Syndrome: Managing Infant Laryngeal Hamartomas.

Diagnostic Utility of Chromosomal Microarray Analysis in a Turkish Pediatric Cohort: Insights from 1,022 Patients with Neurodevelopmental Disorders and Congenital Anomalies.

Improving prognostication for individuals with FOXP1 syndrome: Parent-reported practical and social skills in 52 individuals.

A New Variant in the NALCN Channel Is Responsible for Cerebellar Ataxia and Cognitive Impairment.

Challenge faced in diagnosis and treatment of congenital hypothyroidism presenting with isosexual puberty and bilateral ovarian mass in low and middle income country: a case report.

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder.

Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect.

Association between prenatal Zika virus exposure and neurodevelopmental outcomes in offspring: a protocol for a systematic review and meta-analysis of observational studies.

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

Congenital hypothyroidism in two children affected by Sotos syndrome: a simple association?

Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.

Gestational inoculation by the Zika virus causes cognitive impairment and Na+K+-ATPase activity imbalance in frontal cortex of adult male and female Wistar rat's offspring.

Paternal exposure to antiseizure medications and offspring outcomes: a systematic review and meta-analysis of observational studies.

Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case Report.

Bi-Allelic Loss-of-Function Variant in MAN1B1 Cause Rafiq Syndrome and Developmental Delay.

Parental experiences and needs in Kleefstra Syndrome: A semi-structured interview study.

Developmental impacts of perinatal infections.

Prenatal Characterization of Houge-Janssens Syndrome Type 2: A Case Report and Systematic Review of Fetal Phenotypes Associated With PPP2R1A Mutations.

Expanding the phenotypic spectrum of Beaulieu-Boycott-Innes syndrome: A case report of a novel THOC6 gene mutation associated with ambiguous genitalia and disorders of sexual development.

mRNA Expression to Assess Hypoxia and Angiogenesis in Decidual Tissue of Term Fetuses With a Congenital Heart Disease.

c.7156C > T p.(Gln2386*) variant causes loss-of-function of the USP9X gene in a female-restricted X-linked syndromic intellectual disability: a case report.

Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1.

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

Extremely rare case report of CEBALID syndrome presenting as congenital arthrogryposis.

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

A decade later, what have we learned from the Zika epidemic in children with intrauterine exposure?

Luscan-Lumish syndrome: A case report.

Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.

Functional Characterization of Variants in LARP7: Report of Three New Individuals With Alazami Syndrome and a Literature Review.

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

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

Congenital Rubella Syndrome in the Post-Elimination Era: Why Vigilance Remains Essential.

Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features.

A Colombian Boy with a Novel de novo PURA Variant: A Case Report.

Use of serotonin reuptake inhibitors (SSRIs) and serotonin and norepinephrine reuptake inhibitors (SNRIs) during pregnancy: Effect on fetal growth and long-term reproductive outcomes.

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

Maternal exposure to rubella infection elevates risk of congenital rubella syndrome (CRS).

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

A new association between Kleefstra syndrome and Panayiotopoulos epilepsy.

Absence of Neurodevelopmental Impairment in an Individual With KCNN3 -Related Zimmermann Laband Syndrome.

Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review.

Long term follow-up of multiorgan disease in Kleefstra syndrome 2 in an adult - case report.

Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.

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

LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort.

Heterozygous deletion of 10q24.31-q24.33- a new syndrome associated with multiple congenital anomalies: case report and literature review.

Behavioral profiles and social relationships in Wiedemann-Steiner syndrome: parent reports on 25 cases.

Adaptive Functioning Development in Infants With Agenesis of the Corpus Callosum.

Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.

Mild Zika Virus Infection in Mice Without Motor Impairments Induces Working Memory Deficits, Anxiety-like Behaviors, and Dysregulation of Immunity and Synaptic Vesicle Pathways.

A familial case of congenital central hypoventilation syndrome due to a combination of polyalanine repeat mutation and novel nonpolyalanine repeat mutation.

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.

Proximal Deletions of 14q32.2 Result in Severe Neurodevelopmental Outcomes, Congenital Anomalies, and Dysmorphic Features.

STORCH Brazil: multicenter cohort study protocol to investigate neurodevelopmental paths and functioning in infants exposed to STORCH in Brazil.

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Neonatal lupus erythematosus: an acquired autoimmune disease to be taken seriously.

Autism spectrum disorder and 3p24.3p23 triplication: a case report.

Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders.

Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.

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

[Duplication of the X-chromosomal Xq28 region containing the MECP2 gene in X-linked intellectual disability syndrome Lubs-type].

Disruption of functional network development in children with prenatal Zika virus exposure revealed by resting-state EEG.

Clinical findings and neurodevelopmental outcome in Jamaican children with suspected congenital Zika syndrome.

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

A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa.

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.

Neurodevelopmental Outcomes After Nitric Oxide During Cardiopulmonary Bypass for Open Heart Surgery: A Randomized Clinical Trial.

Cerebral Microhemorrhages in Children With Congenital Heart Disease: Prevalence, Risk Factors, and Association With Neurodevelopmental Outcomes.

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.

Neurodevelopmental outcomes after infant heart surgery for congenital heart disease: a hospital-based multicentre prospective cohort study from India.

Early and Long-Term Adverse Outcomes of In Utero Zika Exposure.

A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol.

Case report: Kabuki syndrome and persistent hypoglycemia in neonates.

Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP.

Denovo variants in POGZ and YY1 genes: The novel mega players for neurodevelopmental syndromes in two unrelated consanguineous families.

[DiGeorge syndrome with 22q11.2 deletion in a patient of Rarámuri ethnicity].

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

From growth hormone deficiency to Kleefstra-2 syndrome: diagnostic  reassessment of treatment-refractory short stature.

RICTOR variants are associated with neurodevelopmental disorders.

Long-term impact of congenital Zika virus infection on the rat hippocampus: Neuroinflammatory, glial alterations and sex-specific effects.

NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.

Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome.

A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature.

Assessment of Affordances in the Home Environment and Neurodevelopment of Children With Congenital Zika Syndrome.

PIK3CA-Related Overgrowth Spectrum: Exploring brain growth from fetus to infant.

High glucose potentiates Zika virus induced-astroglial dysfunctions.

MGA-related syndrome: A proposed novel disorder.

Broadening the PHIP-Associated Neurodevelopmental Phenotype.

High yield of congenital hypothyroidism among infants attending Children Hospital, Nairobi, Kenya. Facility based study in the absence of newborn screening.

A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.

Motor proficiency in school-aged children with CHD.

Defective Neurogenesis in Lowe Syndrome is Caused by Mitochondria Loss and Cilia-related Sonic Hedgehog Defects.

Developmental outcomes of preschool children requiring craniosynostosis surgery in Manitoba: a cohort study.

Comparing Parent Perception of Neurodevelopment after Primary versus Staged Repair of Neonatal Symptomatic Tetralogy of Fallot.

Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report.

Validation of a Paralimbic-Related Subcortical Brain Dysmaturation MRI Score in Infants with Congenital Heart Disease.

Congenital melanocytic nevus syndrome: An association between congenital melanocytic nevi and neurological abnormalities.

Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.

Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion.

A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.

Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature.

New evidence supports RYR3 as a candidate gene for developmental and epileptic encephalopathy.

Auditory and Language Abilities in Children with Takenouchi-Kosaki Syndrome: A Systematic Review.

Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.

SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?

Clinical Findings in a Series of Thirty Eight Patients with Williams-Beuren Syndrome.

7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy.

Concurrent de novo MACF1 mutation and inherited 16p13.11 microduplication in a preterm newborn with hypotonia, joint hyperlaxity and multiple congenital malformations: a case report.

Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda.

The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion.

A case report of spastic diplegic cerebral palsy in a late preterm child with hypoplastic left heart syndrome.

Association between Sleep and Language Development in Children with Congenital Zika Syndrome.

Neurodevelopmental Outcomes of Preschoolers with Antenatal Zika Virus Exposure Born in the United States.

Placenta histology related to flow and oxygenation in fetal congenital heart disease.

Airway management in infants with Robin sequence in the United Kingdom and Ireland: A prospective population-based study.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Ophthalmic manifestations of NAA10-related and NAA15-related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors.

Neuroanatomical Features of NAA10- and NAA15-Related Neurodevelopmental Syndromes.

DDX3X syndrome: From clinical phenotypes to biological insights.

Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.

Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder.

Disruption of myelin structure and oligodendrocyte maturation in a macaque model of congenital Zika infection.

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.

Short Report: 10-year follow-up of a boy with ARID1B-related disorder. Early intervention, longitudinal dimensional phenotype, brain imaging and outcome.

Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder.

Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome.

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty.

Case Report: Identification of a novel PRR12 variant in a Chinese boy with developmental delay and short stature.

The Approach to a Child with Dysmorphic Features: What the Pediatrician Should Know.

Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center.

Long-term visual and neurodevelopmental outcomes in children with Congenital Zika Syndrome after undergoing strabismus surgery.

De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.

Teratogenesis, Perinatal, and Neurodevelopmental Outcomes After In Utero Exposure to Antiseizure Medication: Practice Guideline From the AAN, AES, and SMFM.

Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic intervention.

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.

Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype-phenotype relationship in RASopathies.

Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene's pathogenic mechanism.

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Viral infections in pregnancy and impact on offspring neurodevelopment: mechanisms and lessons learned.

Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro.

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.

Understanding the multidimensional neurodevelopmental outcomes in children after congenital Zika virus exposure.

Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders.

Neurodevelopmental Outcomes of Normocephalic Colombian Children with Antenatal Zika Virus Exposure at School Entry.

Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.

Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.

Auditory Neural Responses and Communicative Functioning in Children With Microcephaly Related to Congenital Zika Syndrome.

A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.

Ophthalmic Manifestations of NAA10-Related and NAA15-Related Neurodevelopmental Syndrome: Analysis of Cortical Visual Impairment and Refractive Errors.

Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.

Neuroinflammation, blood-brain barrier dysfunction, hippocampal atrophy and delayed neurodevelopment: Contributions for a rat model of congenital Zika syndrome.