Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants.

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

Sleep-Disordered Breathing in Chung-Jansen Syndrome.

Disrupted temperature-sleep coupling mechanism in a Dravet syndrome mouse model.

Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.

Novel ocular feature in oculoskeletodental syndrome: high axial myopia and megalocornea in a child with a homozygous PIK3C2A variant.

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

Expanding the Clinical Spectrum of RERE-Related Disorders: A Case Report of Neurodevelopmental Disorder with Brain Malformations Including Chiari Type I.

Rapid Eye Movement (REM) Sleep Behaviour Disorder in Moebius Syndrome: A Rare Pediatric Case.

[Clinical and genetic analysis of two children with Knobloch syndrome due to variants of COL18A1 gene].

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

SNAP-25 disease variants affect synaptic transmission by destabilizing SNARE complexes within a multimeric SNARE ring.

Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity.

Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.

Multiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review.

Novel variant in FGFR2 in a family with anterior segment anomalies.

Poretti-Boltshauser Syndrome in a Toddler: Novel Neuroimaging Features and Clinical Presentation.

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

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

A new case of Rafiq syndrome with coexisting thyroid dyshormonogenesis type 6 in a Chinese patient: case report and literature review.

Expanding the Phenotype of Syndromic SLC30A9 -Associated Disease.

Macular and optic nerve hypoplasia in chromosome 2p partial trisomy.

Language and Cognitive Features in a Girl with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.

Clinical variation in Lowe syndrome: what and how?

The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics.

Mechanics of blunting of actin-myosin interaction dynamics by the actinopathy-causing mutation E334Q in cytoskeletal γ-actin.

Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33.

A novel frameshift variant in the MED13 gene causing intellectual developmental disorder-61 in a Chinese family.

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

Multidisciplinary management of nasal and lacrimal drainage disorders in ectrodactyly-ectodermal dysplasia-clefting syndrome.

Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesia.

Non-Neoplastic Disorders Mimicking Posterior Segment Inflammation.

Case Report: A case of traumatic subgaleal hematoma with delayed massive exophthalmos.

POLR3B-Related Hypomyelinating Leukodystrophy Type 8 (4H Syndrome): A Case Series of Two Siblings.

Case Report: Abnormal pupils caused by the mitochondrial MT-TL1 gene m.3243A>G mutation.

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

Case Report: Identification of a novel hemizygous missense RPL10 gene variant in two unrelated patients.

Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior.

Expanding the Epidemiological and Phenotypic Spectrum of MEGDEL Syndrome: The First Case Report From Egypt.

Multiple problems: a case of Cohen syndrome VPS13B mutation causing bilateral spherical lenses combined with retinitis pigmentosa.

Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death.

Joubert Syndrome in Children-A Comprehensive Analysis of Quality of Life, Functional Independence and Family Impact.

Case Report: A de novo NR2F1 mutation and clinical characteristics of Bosch-Boonstra-Schaaf optic atrophy syndrome in a Chinese patient.

Cerebral/Cortical visual impairment (CVI) in Down syndrome: a case series.

HECW2 Gene Mutation: A Rare Cause of West Syndrome: A Case Report.

Epileptic Spasms in Septo-Optic-Pituitary Dysplasia: A Retrospective Cohort Study.

A novel NR2F1-associated microdeletion underlying Bosch-Boonstra-Schaaf optic atrophy syndrome.

Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis.

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

Ocular Characteristics and Genotype-Oriented Disease Spectrum of Alström Syndrome in Taiwan.

Perinatal nicotine-induced neurotoxicity and behavioral alterations in newborn mice are associated with oxidative stress, inflammation and downregulated Nrf2/HO-1 signaling: protective role of Anethum graveolens.

A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.

A Review of the Ocular Phenotype and Correlation with Genotype in Poretti-Boltshauser Syndrome.

Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.

Novel KIF11 Mutation Associated with Microcephaly, Chorioretinopathy and Impaired Intellectual Development: 20 Years of Follow-Up.

Van Gogh'S Puzzling Diagnosis: Reflecting on the Fuzzy Boundaries of DSM Syndromes.

Pigmentary glaucoma in a patient with 48,XXYY syndrome.

Aicardi syndrome: Clinical spectrum of a rare disorder.

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.

Optic atrophy in Lamb-Shaffer syndrome: two case presentations with ophthalmic imaging studies.

A novel FBXW11 variant in a patient with neurodevelopmental, jaw, eye, and digital syndrome.

Dental Developmental Anomalies in Facial Segmental Hemangiomas Not Related to PHACES.

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

Biotinidase Deficiency: Report of a Tunisian Case With Neuromyelitis Optica-Like Presentation and Review of the Literature.

Bilateral Iris and Chorioretinal Colobomas in a Child With Suspected Lamb-Shaffer Syndrome.

Case report: ocular manifestations of NFIX-associated Malan syndrome.

Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.

Early White Matter Microstructure Alterations in Infants with Down Syndrome.

Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.

[Clinical features of CHARGE syndrome in children].

Clinical and genetic characteristics of glucose transporter 1 deficiency syndrome in a large cohort of Chinese patients.

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

A pathogenic NR2F1 gene variant disrupts transcriptional activity and causes severe neurodevelopmental delay in Bosch-Boonstra-Schaaf syndrome.

Exudative retinal detachment in a pediatric patient with Rubinstein-Taybi syndrome.

The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.

Neonatal-Onset Opsoclonus-Myoclonus-Ataxia-Like Syndrome Caused by De Novo FRMD5 Variant Responsive to IV Steroid Pulse Therapy: Case Report.

The Natural Course of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.

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

A novel TGFBR2 mutation causes Loeys-Dietz syndrome in a Chinese infant: A case report.

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

Compound heterozygous TMEM67 biallelic variants including a novel frameshift mutation in two Filipino adolescent siblings with Joubert syndrome.

SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

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

Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.

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

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

Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome.

Review of encephalocraniocutaneous lipomatosis.

Surgical Treatment of Strabismus in Children With Developmental Delay: A Review of the Literature and Results of Personal Experience.

Novel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathy.

Small Complex Rearrangement in HINT1-Related Axonal Neuropathy.

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

The DESSH Clinic: A New Multidisciplinary Clinic to Address the Complex Needs of Individuals with a Rare Genetic Disorder.

Disordered Electron Transfer: New Forms of Defective Steroidogenesis and Mitochondriopathy.

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

BILATERAL MACULAR DYSPLASIA IN COFFIN-SIRIS SYNDROME.

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.

Association of LONP1 gene with epilepsy and the sub-regional effect.

Barriers to auditory brainstem response testing under anesthesia.

Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.

A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants.

Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome.

A Comparative Study of Ocular Surface Disease in Childhood Glaucoma.

Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation.

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Progressive Dysphagia in Joubert Syndrome: A Report of a Rare Case.

Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.

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

Potential of Massage Therapy for Improved Growth and Development Among Infants Under 9 Months: A Systematic Scoping Review of Intervention Type, Technique, and Outcome.

SMC3 contributes to heart development by regulating super-enhancer associated genes.

Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family.

A Germline ZFX Missense Variant in a Patient With Primary Hyperparathyroidism.

Long-read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities.

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

[NFIX gene mutation causes Marshall-Smith syndrome in a pair of identical twins and literature review].

Exploring the pathological mechanisms underlying Cohen syndrome.

Delayed recruitment of activity-dependent bulk endocytosis in Fmr1 knockout neurons.

GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis.

A case of middle-aged central sleep apnea due to Joubert syndrome with different treatment effects of oxygen and acetazolamide.

Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing.

Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene.

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

De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia.

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

Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies.

Expanding the spectrum of LAMB2: Pierson syndrome associated with neuromuscular junction disorder in two patients.

Complex ADHD Challenging Case: When Simple Becomes Complex: Managing Clinician Bias and Navigating Challenging Family Dynamics in a 6-Year-Old Girl with ADHD and Developmental Delays.

Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature.

Review of Opsoclonus-Myoclonus Ataxia Syndrome in Pediatric Patients.

Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy.

[Natural history of mucopolysaccharidosis type III in a series of Colombian patients].

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.

Septo-Optic Dysplasia: A Case Series of 33 Patients.

Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the Literature.

Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.

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

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.

Atypical Wernicke's encephalopathy without mental status changes following bariatric surgery in an adolescent patient.

Delayed Postnatal Synostosis without Spheno-occipital Synchondrosis Fusion: A Curious Case of Apert Syndrome.

Navigating the complexities of encephalocraniocutaneous lipomatosis: a case series and review.

De novo KAT6B mutation causes Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome in an Iranian boy: a case report.

Mapping neurodevelopment with sleep macro- and micro-architecture across multiple pediatric populations.

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.

Gastrulation-stage alcohol exposure induces similar rates of craniofacial malformations in male and female C57BL/6J mice.

Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child.

Newfound features associated with Hennekam Syndrome (Intestinal Lymphangiectasia-Lymphedema-Intellectual-Disability Syndrome) complicated with comorbid Waldmann's Disease resulting in Celiac Disease.

Facial and ocular manifestations of male patients affected by the HUWE1-related intellectual developmental disorder.

Clinical and ocular abnormalities in DEGCAGS syndrome-Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities.

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report.

Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype.

A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement.

[PETERS ANOMALY AND PETERS PLUS SYNDROME].

S-adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review.

A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene.

Phenotypic heterogeneity of the mitochondrial DNA A8344G variant presenting with dorsal midbrain syndrome.

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.

Techniques for detecting cervical remodeling as a predictor for spontaneous preterm birth: current evidence and future research avenues in patients with multiple pregnancies.

A Report on Children with CEP290 Mutation, Vision Loss, and Developmental Delay.

Novel variants identified in five Chinese families with Joubert Syndrome: a case report.

[Analysis of NR2F1 gene variant in a child with optic atrophy and global developmental delay].

Performance of the Spot Vision Screener in children with Down syndrome and other special needs.

Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy.

Association of autism spectrum disorder with Waardenburg syndrome in a toddler.

Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.

Visual function in children with Joubert syndrome.

Laser interstitial thermal therapy in pediatric cerebellar epilepsy.

Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.

Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.

[Clinical phenotype and genetic analysis of a patient with a heterozygous 6p25.3 deletion and partial trisomy 15q].

The clinical aspects of septo-optic dysplasia: A narrative review with illustrative case report.

Optic nerve abnormalities in female-restricted Wieacker-Wolff syndrome by a novel variant in the ZC4H2 gene.

Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!

Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk.

Capillary Hemangioma in Joubert Syndrome: A Case Report.

Clinical characterization of familial 1p36.3 microduplication.

Rehabilitation Approach for Children With Joubert Syndrome and Related Disorders.

[Clinical and genetic analyses of Joubert syndrome in children].

Developmental profiles of young children with autism spectrum disorder and global developmental delay: A study with the Griffiths III scales.

Novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in an Indian neonate with Joubert syndrome.

New Insights in 9q21.13 Microdeletion Syndrome: Genotype-Phenotype Correlation of 28 Patients.

TOPORS as a novel causal gene for Joubert syndrome.

Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features.

Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene.

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.

Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene.

A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report.

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum.

Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.

Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome.

Bangladeshi Case Series of Bardet-Biedl Syndrome.

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.