Research By Disease – CheckOrphan

Disease: Corpus callosum agenesis

NFIX gene mutation causes Marshall-Smith syndrome in a pair of identical twins and literature review
"Caterpillar sign" in corpus callosum associated with curvilinear pericallosal lipoma in MRI: A case report
A case of cyclopia
A case of Wilson's disease combined with intracranial lipoma and dysplasia of the corpus callosum with review of the literature
A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum
A female case of L1 syndrome that may have developed due to skewed X inactivation
A nationwide survey of Vici syndrome in Japan
A novel 3q interstitial deletion including GATA2 and ZNF148: A case report
A novel cuproptosis-related prognostic gene signature in adrenocortical carcinoma
A novel NONO nonsense variant in a fetus with renal abnormalities
A selective defect in the glial wedge as part of the neuroepithelium disruption in hydrocephalus development in the mouse hyh model is associated with complete corpus callosum dysgenesis
Aicardi Syndrome in an Infant with Migrating Focal Seizure
An Infant With Primrose Syndrome: A Case Report
An unusual presentation of de novo RAC3 variation in prenatal diagnosis
Anomalies of the Corpus Callosum in Prenatal Ultrasound: A Narrative Review for Diagnosis and Further Counseling
ARID1B controls transcriptional programs of axon projection in an organoid model of the human corpus callosum
Assessment of fetal corpus callosum biometry by 3D super-resolution reconstructed T2-weighted magnetic resonance imaging
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
Brain plasticity following corpus callosum agenesis or loss: a review of the Probst bundles
Calloso-adreno-scrotal agenesis associated with biallelic MAPK-activating death domain protein (MADD) variant: Further phenotypic delineation of MADD deficiency
Case report: Pai syndrome with multiple ventricular septal defect and without cleft palate
Case report: Twice-daily tolvaptan dosing regimen in a challenging case of hyponatremia due to SIAD
Clinical characteristics of epileptic seizure in neurofibromatosis type 1 in 15 cases
Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review
Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene
Colpocephaly and Partial Agenesis of Corpus Callosum with High Neurodegenerative Marker Levels
Colpocephaly in an adult: A rare case report
Corpus Callosum Agenesis
Cryo-EM structures elucidate the multiligand receptor nature of megalin
Dandy Walker variant with agenesis of corpus callosum diagnosed late prenatally by foetal ultrasound: a case report
De novo start-loss variant in HIRA in patient with DiGeorge-like syndrome
Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals
Demographic and clinical characteristics, seizure disorders, and antiepileptic drug usage in different types of corpus callosum disorders: a comparative study in children
Demystifying the Mystery of Genes: A Case Report on Constitutional Mismatch Repair Deficiency
Developmental surface dyslexia and dysgraphia in a child with corpus callosum agenesis: an approach to diagnosis and treatment
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations
Dual white matter pathology in fetal holoprosencephaly featuring concurrent malformative and destructive features: A case series
Effects of GLP1 receptor analogues in obesity with neurodevelopmental disorder: case report of a patient with holoprosencephaly
Fetal agenesis of corpus callosum: chromosomal copy number abnormalities and postnatal follow-up
Fetal agenesis of the corpus callosum: Clinical and genetic analysis in a series of 40 patients
Fetal corpus callosal anomalies: from disease of classification to classification of disease
Fetal MRI Analysis of Corpus Callosal Abnormalities: Classification, and Associated Anomalies
Further characterisation of ARX-related disorders in females due to inherited or de novo variants
Gastroschisis and septo-optic-pituitary dysplasia: Is there an association?
Genetic analysis of a fetus with Pitt-Hopkins syndrome due to a 18q21.2q21.31 microdeletion
Genetic etiology of agenesis of the corpus callosum: a retrospective single-center cohort analysis of 114 fetuses
Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy
Genotype-phenotype correlation study of structural abnormalities in a fetal brain caused by a novel KDM4B variant
Holoprosencephaly: Syndromic or Non-syndromic is the question
Human diprosopus: Case report of a rare congenital abnormality
Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome
Iatrogenic Shapiro syndrome: a case report
Imaginative elaboration in agenesis of the corpus callosum: topic modeling and perplexity
Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth
Interhemispheric coherence of EEG rhythms in children: Maturation and differentiation in corpus callosum dysgenesis
Intraventricular Pleomorphic Xanthoastrocytoma: A Case Report and Systemic Review
Knockout mice with pituitary malformations help identify human cases of hypopituitarism
Language and communication functioning in children and adolescents with agenesis of the corpus callosum
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis
Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis
MR insights into fetal brain development: what is normal and what is not
Neurosonographic evaluation of corpus callosum-fastigium and tectal length in late-onset small fetuses
Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements
Partial facial duplication (diprosopus): a case report and review of the literature
Patent Ductus Arteriosus in Association With Agenesis of Corpus Callosum: Syndromic Links, Difficult Airway Challenges, and Pediatric Anesthesia Management
Perinatal clinical course of Vici syndrome associated with novel EPG5 variants: unique cardiac changes and difficulty with foetal diagnosis
Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review
Positive non-invasive prenatal testing for trisomy 13 in the first trimester in a pregnancy with fetal holoprosencephaly, cebocephaly and postaxial polydactyly
Post-mortem rapid aneuploidy testing for holoprosencephaly
Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up
Prenatal Diagnosed Agenesis of the Corpus Callosum: Identifying the Underlying Genetic Etiologies
Prenatal diagnosis of a severe form of frontonasal dysplasia with severe limb anomalies, hydrocephaly, a hypoplastic corpus callosum, and a ventricular septal defect using 3D ultrasound: a case report and literature review
Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the PIGN Gene-A Case Series
Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant
Prenatal Diagnosis of Primrose Syndrome
Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations
Prenatal Magnetic Resonance Imaging helps Discover Cerebellar Dysplasia or Malformations in Foetuses
Prevalence of corpus callosum pathology in an unselected population. Should assessment of the corpus callosum be included in the routine 20 weeks scan?
Re: Too short or too long: impact of corpus callosal measurement on prenatal counseling
Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome
Restrictive Dermopathy Due to ZMPSTE24 Mutation: A Case Report with a Novel Finding of Corpus Callosum Agenesis
Retrospective analysis of the prognostic factors of fetal corpus callosum dysplasia
SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?
Segmental Agenesis of the Corpus Callosum With Pituitary Hypoplasia
Septo-Optic Dysplasia: A Case Series of 33 Patients
Shapiro's syndrome: episodic hypothermic hyperhidrosis
Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury
Sleep disorders in pediatric patients with agenesis of the corpus callosum
Spontaneous intracranial hypotension in a patient without corpus callosum: A case report
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability
Surgical treatment of interhemispheric arachnoid cysts
Teaching Neuroimage - Aicardi Syndrome: A Triad of Epileptic Spasms, Agenesis of Corpus Callosum, and Chorio-Retinal Lacunae
The "cortical invagination sign": a midtrimester sonographic marker of unilateral cortical focal dysgyria in fetuses with complete agenesis of the corpus callosum
The postnatal injection of AAV9-FOXG1 rescues corpus callosum agenesis and other brain deficits in the mouse model of FOXG1 syndrome
The rare malformation holoprosencephaly: pathogenesis, association with pregestational diabetes and the possible link with food pollutants
Threat and adaptation: The maternal lived experience of continuing pregnancy after receiving a prenatal diagnosis of agenesis of the corpus callosum
Too short or too long: impact of corpus callosal measurement on prenatal counseling
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly