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

Anesthetic Management of a Patient With Myhre Syndrome.

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

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

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

The herculean illusion: congenital hypothyroidism masquerading as muscular dystrophy.

Application of the Gross Motor Function Measure in children with conditions other than cerebral palsy: A systematic review.

Profile of Musculoskeletal Anomalies in Indian Children with Down Syndrome.

Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder.

Siblings With Berardinelli-Seip Congenital Lipodystrophy: Clinical Insights and Challenges.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients.

Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype.

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.

Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.

Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder.

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.

PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.

Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.

Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.

Prenatal Diagnosis of Primrose Syndrome.

Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.

Electroclinical Features of Epilepsy in Kleefstra Syndrome.

Meticulous and Early Understanding of Congenital Cranial Defects Can Save Lives.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG-An Observational Study and Literature Review.

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.

GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.

Progeroid syndrome of De Barsy - a case report and review of ophthalmic literature.

Long Head of Triceps Tendon Transfer for Agenesis of Biceps and Brachialis: Two Cases.

Expert consensus on diagnosis and treatment of very long-chain acyl-CoA dehydrogenase deficiency.

[Clinical features and genetic analysis of two Chinese patients with Coffin Siris syndrome-1].

Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.

Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review.

Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features.

BRPF1-associated syndrome: A patient with congenital ptosis, neurological findings, and normal intellectual development.

Congenital heart defects in molecularly confirmed KBG syndrome patients.

Rhomboencephalosynapsis: Review of the Literature.

Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.

Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment-A Case Report.

Special Needs Insurance: More Stability for a Growing Family's Budget.

Complex glycerol kinase deficiency - long-term follow-up of two patients.

Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview.

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.

Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome.

Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome.

Anaesthesia and orphan disease: management of a case of Nicolaides-Baraitser syndrome undergoing cleft palate surgery.

A homozygous mutation in the POMT2 gene in four siblings with limb-girdle muscular dystrophy 2N.

Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Third case of Duchenne muscular dystrophy and West syndrome: Expanding the spectrum of the DMD neuropsychiatric phenotype.

[Congenital myasthenic syndrome related to SLC25A1 gene variant: two cases report and literature review].

Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene.

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.

Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.

Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.

Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.

Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.

The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes.

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.

Is heart transplantation a real option in patients with Duchenne syndrome? Inferences from a case report.

Phenotypic spectrum and genetic analysis in the fatal cases of Schaaf-Yang syndrome: Two case reports and literature review.

A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants.

Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability.

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.

Novel NtA and LG1 Mutations in Agrin in a Single Patient Causes Congenital Myasthenic Syndrome.

A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant.

A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.

Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.

Pancreatic Malnutrition in Children.

The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity.

Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.

Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB).

The expanding phenotypes of cohesinopathies: one ring to rule them all!

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.

Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity.

Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency.

Molecular Specialization of GABAergic Synapses on the Soma and Axon in Cortical and Hippocampal Circuit Function and Dysfunction.

Structural Magnetic Resonance Imaging-Based Brain Morphology Study in Infants and Toddlers With Down Syndrome: The Effect of Comorbidities.

Anesthetic management of a child with congenital Steiner syndrome scheduled for laparoscopic bilateral orchidopexy.

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome.

[ORAI1 variation induced combined immunodeficiency: a case report and literature review].

Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea.

OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

Chanarin-Dorfman syndrome.

Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.

[Clinical and genetic features of five patients with Allan-Herndon-Dudley syndrome].

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review.

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.

Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome?

The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes.

Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.

The oculocerebrorenal syndrome of Lowe: an update.

A structured assessment of motor function and behavior in patients with Kleefstra syndrome.

[Neurological prognosis of floppy infants after health examinations].

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

Treatment of congenital thyroid dysfunction: Achievements and challenges.

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy.

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.

Redefining the MED13L syndrome.