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Síndrome de agenesia do corpo caloso-perturbação do desenvolvimento intelectual-coloboma-micrognatia
ORPHA:52055CID-10 · Q87.8OMIM 300472DOENÇA RARA

Síndrome de anomalias de desenvolvimento caracterizada por coloboma da íris e do nervo óptico, dismorfismo facial (testa alta, microretrognatia, orelhas de inserção baixa), déficit intelectual, agenesia do corpo caloso (ACC), perda auditiva neurossensorial, anomalias esqueléticas e baixa estatura.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Síndrome de anomalias de desenvolvimento caracterizada por coloboma da íris e do nervo óptico, dismorfismo facial (testa alta, microretrognatia, orelhas de inserção baixa), déficit intelectual, agenesia do corpo caloso (ACC), perda auditiva neurossensorial, anomalias esqueléticas e baixa estatura.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
2
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PR, PA, PE, CE, DF +5CID-10: Q87.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

😀
Face
6 sintomas
👂
Ouvidos
6 sintomas
👁️
Olhos
4 sintomas
🦴
Ossos e articulações
4 sintomas
🧠
Neurológico
2 sintomas
🫃
Digestivo
2 sintomas

+ 10 sintomas em outras categorias

Características mais comuns

100%prev.
Deficiência intelectual
Muito frequente (99-80%)
100%prev.
Nistagmo
Muito frequente (99-80%)
100%prev.
Testa alta
Muito frequente (99-80%)
100%prev.
Pescoço curto
Muito frequente (99-80%)
100%prev.
Agenesia do corpo caloso
Muito frequente (99-80%)
100%prev.
Baixa estatura
Muito frequente (99-80%)
37sintomas
Muito frequente (21)
Frequente (15)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 37 características clínicas mais associadas, ordenadas por frequência.

Deficiência intelectualIntellectual disability
Muito frequente (99-80%)100%
NistagmoNystagmus
Muito frequente (99-80%)100%
Testa altaHigh forehead
Muito frequente (99-80%)100%
Pescoço curtoShort neck
Muito frequente (99-80%)100%
Agenesia do corpo calosoAgenesis of corpus callosum
Muito frequente (99-80%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa2
Últimos 10 anos200publicações
Pico2025147 papers
Linha do tempo
2024Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: X-linked recessive.

IGBP1Immunoglobulin-binding protein 1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Associated to surface IgM-receptor; may be involved in signal transduction. Involved in regulation of the catalytic activity of the phosphatases PP2A, PP4 and PP6 by protecting their partially folded catalytic subunits from degradative polyubiquitination until they associate with regulatory subunits

LOCALIZAÇÃO

Cytoplasm

MECANISMO DE DOENÇA

Intellectual developmental disorder, X-linked, syndromic 28

An intellectual disability syndrome characterized by agenesis of the corpus callosum, coloboma of the iris and optic nerve, severe retrognathia, and intellectual deficit. Intellectual disability is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
180.9 TPM
Cervix Endocervix
143.6 TPM
Cervix Ectocervix
113.9 TPM
Útero
109.1 TPM
Linfócitos
107.8 TPM
OUTRAS DOENÇAS (1)
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
HGNC:5461UniProt:P78318

Variantes genéticas (ClinVar)

122 variantes patogênicas registradas no ClinVar.

🧬 IGBP1: GRCh37/hg19 Xq13.1-22.3(chrX:69013433-104620838)x2 ()
🧬 IGBP1: GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 ()
🧬 IGBP1: GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848) ()
🧬 IGBP1: GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081) ()
🧬 IGBP1: GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 5 variantes classificadas pelo ClinVar.

1
4
Patogênica (20.0%)
VUS (80.0%)
VARIANTES MAIS SIGNIFICATIVAS
IGBP1: NM_001551.3(IGBP1):c.-57_-55delinsAA [Pathogenic]
IGBP1: NM_001551.3(IGBP1):c.797C>T (p.Thr266Met) [Uncertain significance]
IGBP1: NM_001551.3(IGBP1):c.266C>T (p.Thr89Ile) [Uncertain significance]
IGBP1: NM_001551.3(IGBP1):c.995A>G (p.Tyr332Cys) [Uncertain significance]
IGBP1: NM_001551.3(IGBP1):c.37C>G (p.Pro13Ala) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de agenesia do corpo caloso-perturbação do desenvolvimento intelectual-coloboma-micrognatia

Centros de Referência SUS

13 centros habilitados pelo SUS para Síndrome de agenesia do corpo caloso-perturbação do desenvolvimento intelectual-coloboma-micrognatia

Centros para Síndrome de agenesia do corpo caloso-perturbação do desenvolvimento intelectual-coloboma-micrognatia

Detalhes dos centros

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

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

Clinical genetics2026 Mar 20

Biallelic loss-of-function variants in FBXO31 cause autosomal-recessive intellectual disability. A recurrent de novo variant, c.1000G>A(p.Asp334Asn), has been described in association with an autosomal-dominant phenotype. To refine this phenotype and its clinical implications, we re-evaluated three published cases and ascertained four additional probands via advocacy networks, GeneMatcher, and clinician referral. Phenotyping included neurologic, behavioral, and dysmorphology assessment. All seven individuals carried the recurrent de novo FBXO31 p.Asp334Asn variant. A core neurodevelopmental profile was observed and included cerebral palsy (mixed hypotonia, spasticity, and dystonia), global developmental delay/intellectual disability, and speech impairment. Neuropsychiatric features were sometimes prominent and included attention-deficit/hyperactivity disorder, anxiety, stereotypies, autistic features, and behavioral dysregulation. Neuroimaging often showed a hypoplastic corpus callosum and posterior-predominant white-matter changes. In one individual, gray matter heterotopias were also observed. A subtle but consistent facial gestalt was noted. Recurrent FBXO31 p.Asp334Asn variants lead to a recognizable neurodevelopmental syndrome. Based on our findings, we recommend including FBXO31 in diagnostic algorithms for cerebral palsy and neurodevelopmental disorders. We propose the descriptive term "autosomal dominant FBXO31-associated neurodevelopmental disorder," and-consistent with the validating laboratory and with support from the FBXO31 Foundation-propose the eponym "Kruer syndrome."

#2

Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience2026 Apr

Congenital Zika syndrome (CZS) represents a spectrum of fetal and neonatal abnormalities resulting from in utero Zika virus (ZIKV) transmission during pregnancy. Given the severe multisystem disabilities, relative recency of the epidemic and limited long-term data, comprehensive characterization at specialized centres is crucial. This study aimed to examine clinical symptoms, brain imaging and brain activity (video electroencephalography, VEEG) patterns in children with CZS receiving care at a specialized rehabilitation centre. We conducted a cross-sectional study from August 2018 to January 2019 with 48 children diagnosed with CZS according to the Brazilian Ministry of Health criteria. We collected clinical data from electronic medical records. The most common clinical problems included bladder and bowel incontinence (97.9%), epilepsy (85.5%), facial abnormalities (89%), swallowing difficulties (83.3%), excessive irritability (81.3%), eye misalignment (75%), sleep problems (72.9%), acid reflux (62.0%) and vision problems (62.5%). Brain imaging revealed reduced brain tissue volume (95.8%), abnormal corpus callosum (91.1%), enlarged fluid-filled spaces in the brain (89.5%), calcium deposits at the brain's outer layers (78.3%) and abnormally thick brain folds (71.1%). We found significant links between bone/muscle malformations and both white matter disease (p = 0.036) and enlarged brain ventricles (p = 0.031). Children with CZS consistently show motor difficulties, multiple clinical problems and characteristic brain abnormalities. These findings predict significant limitations in daily activities, movement and cognitive-social development.

#3

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

Frontiers in neurology2026

CTNNB1 monoallelic pathogenic variants account for up to 4% of genetically determined cerebral palsy cases, yet their phenotypic spectrum remains poorly defined. We retrospectively analyzed 25 individuals with pathogenic CTNNB1 variants using medical records and a questionnaire. Data included genetic variants, perinatal history, developmental milestones, behavioral characteristics, head growth, feeding, sleep difficulties, neurological and ophthalmological assessments. Brain MRIs were reviewed by expert neuroradiologists. Twenty-two distinct heterozygous variants were identified. Microcephaly occurred in 16/22 patients. All exhibited global developmental delay, independent walking was achieved at a mean age of 2.1 years, with regression in 4/16 independent walkers. Behavioral disorders were frequent, as were oral sensorimotor disorders (21/25) and sleep disturbances (13/21). Lower limb hypertonia was present in 22/25 patients [spastic (8) and/or dystonic (11)]. Unstable gait were common among ambulatory patients. Exaggerated startle reactions, often since birth, were reported in 16/21. Exudative vitreoretinopathy was identified in 3/5 patients with retinal angiography. Brain MRI (19 patients) showed: thickening of anterior commissure (8), frontal lobe hypoplasia (9), widening of superior vermian sulci (10) and corpus callosum anomalies (7). This study broadens the spectrum of CTNNB1-related syndrome, reporting a complex motor phenotype combining (i) gait disturbances related to dystonic or non-dystonic hypertonia and unsteadiness, sometimes associated to dystonia in other body parts (ii) possible deterioration of motor achievements over the course of the disease (iii) an exaggerated startle reflex. New non-specific brain anomalies are precisely described. Our work underscores the need for registries and longitudinal studies to refine characterization and guide future therapies.

#4

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

Frontiers in pediatrics2026

To characterize the clinical and genetic features of a female infant with X-linked intellectual disability syndrome type 34 (MRXS34) caused by a de novo NONO frameshift variant, expanding the understanding of phenotypic mechanisms in females for this X-linked disorder. Retrospective study of the clinical data of a 10-month-old female infant diagnosed with MRXS34 due to NONO gene variation in June 2024, along with a literature review. The proband presented with global developmental delay, relative macrocephaly, generalized hypotonia, cardiac anomalies (patent foramen ovale, moderate tricuspid regurgitation, pulmonary hypertension), etc. Whole-exome sequencing (WES) identified a de novo heterozygous frameshift variant in NONO (NM_007363.5): c.994del (p.Gln322Lysfs*31), confirmed absent in both parents by Sanger sequencing. X-chromosome inactivation (XCI) analysis revealed extreme skewing (99% inactivation of the paternal X-chromosome). Transcriptome sequencing demonstrated significantly reduced NONO expression (TPM = 20.70 vs. controls 52.34 ± 5.81). Literature review encompassing 27 postnatal MRXS34 cases (all male) consistently reported intellectual disability/developmental delay (100%), craniofacial dysmorphism (100%), cardiac defects (91.3%, predominantly left ventricular non-compaction), and corpus callosum abnormalities (85%). We report the first molecularly confirmed female MRXS34 patient. Her full phenotypic manifestation is attributed to the de novo NONO loss-of-function variant combined with extreme non-random XCI. This case critically expands the clinical spectrum of MRXS34, underscores the diagnostic importance of XCI analysis in females with XLID phenotypes, and provides insights into the mechanisms enabling female expression of X-linked recessive disorders.

#5

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

American journal of human genetics2026 Mar 05

Disruption of the complex processes underlying central nervous system development leads to a broad spectrum of brain malformations and neurodevelopmental disorders, often with a genetic cause. Here, we report bi-allelic pathogenic variants in fibronectin type III and SPRY domain-containing 1-like (FSD1L), encoding a protein of unknown function, in eleven individuals, including five fetuses from six unrelated families. The phenotype ranges from severe hydrocephalus, corpus callosum agenesis, and absent pyramid decussation to a neurodevelopmental syndrome characterized by severe intellectual disability, spastic tetraparesis, reduced vision, and epilepsy, associated with corpus callosum agenesis/hypoplasia, mild ventricular dilation, optic nerve hypoplasia, and white matter reduction. This phenotype closely resembles that observed in L1 syndrome, caused by pathogenic variants in L1CAM, encoding a neural adhesion molecule. The knockdown of Fsd1l in mouse embryos recapitulated the ventricular dilation observed in affected fetuses. Immunohistochemical studies in human control fetuses revealed that FSD1L localized to neurons with commissural fate and projection neurons during human development. Induced pluripotent stem cell (iPSC)-derived neural progenitor cells from affected individuals failed to differentiate into premature neurons and to properly form neurospheres while undergoing increased cell death. In neural progenitors, FSD1L localized with microtubules of the mitotic spindle during M phase and to the transition zone and along the axoneme of the primary cilium during interphase. In line with this, fibroblasts from affected individuals exhibited marked alterations of the mitotic spindle and reduced ciliogenesis and ciliary length compared to control cells. Our findings define FSD1L as a microtubule-associated protein implicated in neuronal differentiation, axon guidance, and fasciculation.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

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

Clinical genetics
2026

Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.

Journal of addiction medicine
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Heterozygous frameshift KMT2A variant in a patient with Wiedemann-Steiner syndrome.

Human genome variation
2026

Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
2026

Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.

Molecular genetics and metabolism
2026

Tuberculous meningitis presenting as MERS Type II syndrome: A case report.

The Indian journal of tuberculosis
2026

Recurrent IRF2BPL c.2152del Variant in NEDAMSS: A Case Report and Comparative Analysis.

American journal of medical genetics. Part A
2026

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

Frontiers in neurology
2026

A novel homozygous frameshift mutation in the WDR73 gene causes Galloway-Mowat syndrome in a Chinese consanguineous family.

Ophthalmic genetics
2026

Boomerang sign in the corpus callosum and bilateral cerebellar peduncles: CLOCCs plus-a case report.

BJR case reports
2026

Fetal Neuroimaging in Aicardi Syndrome: A Case Report and Literature Review.

Cureus
2026

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

Frontiers in pediatrics
2026

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

American journal of human genetics
2026

Macrocephaly and Characteristic MRI Findings as Early Clues to a Hereditary Overgrowth Syndrome.

Cureus
2026

NONO-Related Syndromic X-Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort.

Prenatal diagnosis
2026

Alien Hand Syndrome Secondary to Acute Anterior Corpus Callosum Infarction Despite Dual Antiplatelet Therapy: A Case Report.

Cureus
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Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS.

Cerebellum (London, England)
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Twins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.

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

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
2026

[Giant cavernous malformation of the genu of the corpus callosum].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
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Neurological Consequences of Infantile Vitamin B12 Deficiency - A Prospective Cohort Study.

Pediatric neurology
2026

CSF1R-related leukoencephalopathy presenting with early apathy, hypoactivity, and cognitive flattening: a case report of a diagnostic challenge.

Frontiers in human neuroscience
2026

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

medRxiv : the preprint server for health sciences
2026

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

Cureus
2026

Loss of Zmiz1 in Mice Leads to Impaired Cortical Development and Autistic-Like Behaviors.

Biological psychiatry
2026

A Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 Microdeletion.

American journal of medical genetics. Part A
2026

Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome.

Experimental &amp; molecular medicine
2026

Prospective observational study of magnetic resonance imaging in anti-CD19 CAR T-cell-associated neurotoxicity.

Journal of neurology
2026

Patient Similarity Networks for Irritable Bowel Syndrome: Revisiting Brain Morphometry and Cognitive Features.

Diagnostics (Basel, Switzerland)
2025

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

Cureus
2026

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient.

Birth defects research
2026

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

Journal of medical genetics
2026

Posthydrocephalus corpus callosum damage and its mimics: A case report.

Radiology case reports
2026

Descriptive Exploration of Features Among Infants With Prenatal Fentanyl Exposure in a Multisite Cohort of Maternal-Infant Dyads Affected by Opioid Use Disorder.

Journal of addiction medicine
2026

Multiple Cerebral Infarctions and Clinically Mild Encephalitis/Encephalopathy with a Reversible Splenial Lesion Associated with Streptococcal Toxic Shock Syndrome: A Case Report.

Case reports in neurology
2026

A Case-Control Study On Corpus Callosum Volume and Clinical Correlates in Treatment-Resistant and Responsive Schizophrenia Patients: Addressing MRI Analysis within Single-Subject and a Novel Artificial Intelligence Paradigm.

Current neuropharmacology
2026

Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.

Neurogenetics
2026

Aesthetic judgement and appreciation in agenesis of the corpus callosum.

Neuropsychologia
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Clinical and Molecular Spectrum of PPP2R1A-Related Neurodevelopmental Disorders: A Systematic Review.

Genes
2026

Tailored Callosotomy Guided by Neuronavigated Autofocus Microscope for Interhemispheric Transcallosal Approach to Intraventricular Lesions.

World neurosurgery
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[Clinical and genetic analysis of a child with X-linked Hoyeraal-Hreidarsson syndrome due to variant of DKC1 gene and a literature review].

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Vigabatrin-Associated Brain Magnetic Resonance Imaging Abnormalities in Two Children With WW domain-containing oxidoreductase-Related Epileptic Encephalopathy Syndrome.

Pediatric neurology
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Influenza B-Associated Mild Encephalopathy with Reversible Splenial Lesion in an Adult: A Case Report.

Neurology international
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Microstructural White Matter Alterations in Angelman Syndrome: A Fixel-Based Analysis.

Autism research : official journal of the International Society for Autism Research
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Impaired Complex I dysregulates neural/glial precursors and corpus callosum development revealing postnatal defects in Leigh syndrome mice.

EMBO molecular medicine
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Shapiro Syndrome: A Case Report.

Cureus
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No disconnection syndrome after near-complete callosotomy.

Communications psychology
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Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
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Comparative analysis of clinical phenotypes and genetic characteristics in MEF2C-associated neurodevelopmental disorders.

Seizure
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Surgical management of Lennox-Gastaut syndrome: A focused update on resective surgery and corpus callosotomy.

Seminars in pediatric neurology
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Frontotemporal dementia characterization using neurite orientation dispersion and density imaging.

Brain communications
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Prenatally diagnosed chromosome 1p36 deletions: a retrospective case series, literature review, and genotype-phenotype correlations.

BMC medical genomics
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Chudley-McCullough syndrome: A report of a rare syndromic sensorineural hearing loss.

Radiology case reports
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Prenatal Diagnosis of 6q Terminal Deletion Associated with Coffin-Siris Syndrome: Phenotypic Delineation and Review.

Genes
2025

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

Children (Basel, Switzerland)
2025

Mild Encephalitis/Encephalopathy With a Reversible Splenial Lesion (MERS) Type II in an Adult: A Case Report and Diagnostic Insight.

Cureus
2026

Posterior two-thirds corpus callosotomy in the semisitting position: Technical advantages and outcomes in drug-resistant epilepsy.

Epilepsia
2026

Imaging of vestibular function and disorders and its clinical relevance.

Current opinion in neurology
2025

Transcription factor 4 regulates the interhemispheric midline remodeling through neuron-astroglia communications during corpus callosum formation.

Translational psychiatry
2026

Chronic interferon-alpha overexpression induces white matter damage and neurovascular abnormalities in a mouse model of Aicardi-Goutières syndrome.

Experimental neurology
2025

A rare variant of USP9X associated with female-restricted X-linked syndromic intellectual disability.

Molecular biology reports
2025

[Genetic and clinical characteristics in epilepsy patients with ATP6V1A gene variants].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2025

The influence of early nutrition intake and clinical factors on the brain development of preterm infants with intrauterine growth restriction.

Translational pediatrics
2025

Are NONO variants linked to congenital heart disease? Patient reports and review.

European journal of medical genetics
2025

Rogers Syndrome and Callosal Disconnection in the Setting of Moyamoya Disease.

Cureus
2026

Identification of a novel de novo NONO variants causing X-linked syndromic intellectual developmental disorder-34 in a fetus.

European journal of obstetrics, gynecology, and reproductive biology
2025

First Report of a Familiar MYCBP2 Pathogenic Variant: Expanding the Knowledge of Neurodevelopmental Disorders.

Balkan journal of medical genetics : BJMG
2025

Microcephaly, Epilepsy, and Diabetes Syndrome 1: A Moroccan Case Report of Novel Compound Heterozygous IER3IP1 Mutations and Literature Review.

Balkan journal of medical genetics : BJMG
2026

Callosotomy Outcomes: A Meta-Analysis.

World neurosurgery
2025

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

Journal of molecular neuroscience : MN
2025

Characterization of brain microstructural changes in children with infantile vitamin B12 deficiency using diffusion tensor imaging.

Neuroradiology
2025

Prenatal Diagnosis of Rubinstein-Taybi Syndrome-Reporting Twelve Cases of a Rare Disease.

Prenatal diagnosis
2025

Susac syndrome and associated diagnostic challenges: a case report.

Journal of medical case reports
2025

Neuroteratogenic mechanisms of Zika virus (ZIKV) infection: Insights into fetal brain development disruption and congenital Zika syndrome: A systematic review.

Molecular aspects of medicine
2025

Susac syndrome - different treatment approaches for one disease (analysis of case series).

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2025

Prenatal diagnosis of 15q13.3 deletion and duplication syndrome: what do we tell the prospective parents?

Archives of gynecology and obstetrics
2025

Full interhemispheric integration sustained by a fraction of posterior callosal fibers.

Proceedings of the National Academy of Sciences of the United States of America
2025

Glial fibrillary acidic protein autoimmunity in reversible splenial lesion syndrome: diagnostic and therapeutic implications.

Frontiers in neurology
2025

Abnormal development of corticospinal tracts in children with Tourette syndrome: A single-center retrospective study.

Medicine
2026

Nasal Glioma in a Newborn With Suspected Pai Syndrome: Surgical and Diagnostic Insights.

The Journal of craniofacial surgery
2025

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant.

NPJ genomic medicine
2025

Some novel causes and clinical characteristics of reversible splenial lesion syndrome- found in children.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2025

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

Molecular syndromology
2025

Hereditary Spastic Paraplegy Associated with the AP4S1 Gene: A Case Series Highlighting Diagnostic Pitfalls and Phenotypic Variability.

Molecular syndromology
2025

Unraveling the mystery of alien hand syndrome: when your hand has a mind of its own.

Orphanet journal of rare diseases
2025

Cytotoxic Lesions of the Corpus Callosum (CLOCC) in Siblings: A Case Report.

Current medical imaging
2025

Post‑stroke disorders of ownership and agency, alien/anarchic hand syndrome: A longitudinal case analysis and systematic review.

The Clinical neuropsychologist
2025

Anesthesiologist's Concerns About Dandy-Walker Syndrome: Airway Management, Muscle Relaxants, and Train-of-Four Monitoring of Neuromuscular Blockade.

Journal of medical cases
2025

The histone methyltransferase SETD2 regulates adult brain structure, connectivity and neurogenesis.

Scientific reports
2025

Rare features in Feingold syndrome type 1.

European journal of medical genetics
2025

Reverse Shapiro Syndrome Presenting as Fever of Unknown Origin: A Case Report and Review of the Literature.

Cureus
2025

Gerstmann's Syndrome and Limb Apraxia: A Single Case Study.

Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists
2025

Current practices and trends in surgical decision-making for children with Lennox-Gastaut syndrome: A cross-sectional survey by the Pediatric Epilepsy Research Consortium.

Epilepsia open
2025

Recurrent Spontaneous Hypothermia in an Elderly Woman: A Rare Neurological Case of Late-Onset Shapiro Syndrome.

Cureus
2025

Epileptic drop attacks: More than just atonic seizures.

Epilepsia open
2025

Progressive lifespan modifications in the corpus callosum following a single concussion in juvenile male mice monitored by diffusion MRI.

Experimental neurology
2025

A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.

Brain : a journal of neurology
2025

Modified surgical procedure of corpus callosotomy: rostral corpus callosotomy via the transfrontal approach in dogs.

Frontiers in veterinary science
2025

Challenges in diagnosing diaphragmatic eventration in a neonate with Fryns syndrome and cleft palate.

Radiology case reports
2025

An evolutionarily conserved role for CTNNB1/β-CATENIN in regulating the development of the corpus callosum.

iScience
2025

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

American journal of human genetics
2025

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

Genes
2025

Mechanics of the Spatiotemporal Evolution of Sulcal Pits in the Folding Brain.

Human brain mapping
2025

Atypical Edema in Posterior Reversible Encephalopathy Syndrome: Clinical Associations and Outcome.

Journal of neuroimaging : official journal of the American Society of Neuroimaging
2025

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

medRxiv : the preprint server for health sciences
2025

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

Molecular genetics &amp; genomic medicine
2025

Longitudinal diffusion tensor imaging correlates with amyloid burden in Down syndrome.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2025

A case of infective endocarditis with the manifestation of multi-organ embolisms: a case report.

Cardiovascular journal of Africa
2025

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

Molecular syndromology
2025

Fourteen New Pediatric Cases of Shapiro Syndrome.

Pediatric neurology
2025

Diffusion Tensor Imaging in Acute, Chronic, and Remote Mild Traumatic Brain Injury: A Systematic Review of Cross-Sectional and Longitudinal Studies.

Journal of neurotrauma
2025

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.

Journal of medical case reports
2025

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

BMC pediatrics
2025

Characterization of astrocyte density in the Pitt-Hopkins Syndrome mouse model of ASD.

bioRxiv : the preprint server for biology
2025

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

Pediatric neurology
2025

Neuroimaging characteristics of single Large-Scale mitochondrial DNA deletion syndromes.

Neuroradiology
2025

Cytotoxic Lesions of the Corpus Callosum Preceding Osmotic Demyelination Syndrome in Hypernatremia and Hyperosmolar Hyperglycemic State: A Case Report.

Electrolyte &amp; blood pressure : E &amp; BP
2025

Distinct white matter alteration patterns in post-infectious and gradual onset chronic fatigue syndrome revealed by diffusion MRI.

Scientific reports
2025

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5.

American journal of medical genetics. Part A
2025

Balint Syndrome in a Patient With Isolated Corpus Callosum Stroke: A Case Study With Narrative Review.

Cureus
2025

Clinical Observation on Orbital Teratoma of Delleman Syndrome Diagnosed by Fetal MRI Without Cutaneous Manifestations.

Maternal-fetal medicine (Wolters Kluwer Health, Inc.)
2025

Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2.

Neurogenetics
2025

Antemortem radiologic and histopathologic presentation of Marchiafava-Bignami disease.

Journal of neuropathology and experimental neurology
2025

Metronidazole-induced toxicity of the central and peripheral nervous system.

BMJ case reports
2025

Clinical Variability of Pediatric MERS: Insights from a Retrospective Observational Study.

Journal of clinical medicine
2025

Expansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome.

Genes
2025

PTPRD pleiotropy, genetically driven childbirth timing, and corpus callosum microstructure as potential mechanisms underlying ADHD-RLS comorbidity.

Sleep medicine
2025

Brain Microstructure Interrogation by Diffusion Tensor and Kurtosis Imaging in Progressive Supranuclear Palsy Subtypes.

Journal of neuroimaging : official journal of the American Society of Neuroimaging
2025

New variants and genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy.

Frontiers in neuroscience
2025

A Clinical Study of Nine Patients With ReNU Syndrome.

American journal of medical genetics. Part A
2025

Long-term outcomes of corpus callosotomy in adult patients with drug-resistant epilepsy: Results from a single neurosurgical center in Mexico.

Epilepsia open
2025

Evolving Magnetic Resonance Imaging (MRI) Findings in Immune Effector Cell-Associated Neurotoxicity Syndrome.

Cureus
2025

Syndromic congenital hypoacusis associated with premature birth and a variant of the SPEN gene: A case report and literature review.

Experimental and therapeutic medicine
2025

Diffusion Tensor Imaging in Progressive Supranuclear Palsy Versus Other Neurodegenerative Diseases: A Review.

Journal of neuroimaging : official journal of the American Society of Neuroimaging
2025

Mild Encephalitis/Encephalopathy With a Reversible Splenial Lesion (MERS) in an Adult: An Associated Finding in Severe Acute Pancreatitis With Multisystem Involvement.

Cureus
2025

Diffusion MRI biomarkers for predicting treatment outcomes in infantile epileptic spasms syndrome with non-lesional MRI.

Seizure
2025

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

International journal of molecular sciences
2025

White matter trajectories in Down syndrome and Alzheimer's disease: Insights from diffusion tensor-based morphometry.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2025

A case of fragile X-associated tremor/ataxia syndrome with superior cerebellar peduncle lesions.

eNeurologicalSci
2025

EEG changes and seizure outcomes following anterior corpus callosotomy in adults with Lennox-Gastaut syndrome: A single-center experience.

Epilepsy research
2025

Investigating the structural neuroimaging signature of apathy in Parkinson's disease.

Behavioural brain research
2025

Developmental Neurotoxicity (DNT) Studies for Chemical Safety Assessments: Basic Concepts, Experimental Strategies, and Future Directions.

Toxicologic pathology
2025

COVID-19-Associated Cytotoxic Lesions of the Corpus Callosum in Chinese Patients: A Retrospective Study.

Brain and behavior
2025

Seizure-type-specific treatment responses in Lennox-Gastaut Syndrome: A comprehensive review of pharmacological, neuromodulatory, dietary, and surgical therapies.

Epilepsy &amp; behavior : E&amp;B
2025

Aphallia in a patient with 9q34 duplication syndrome: a case report.

BMC urology
2025

Loss of Asxl1 disrupts telencephalic midline integrity through dysregulation of SIX3 target genes.

Biochemical and biophysical research communications
2025

Chronic Vanadium Exposure Promotes Aggregation of Alpha-Synuclein, Tau and Amyloid Beta in Mouse Brain.

Journal of neurochemistry
2025

Midline defect with corpus callosum agenesis, vermian hypoplasia and median cleft lip palate.

Case reports in perinatal medicine
2025

Tumor resection in paramedian structures of the frontal lobe poses a risk for corpus callosum infarction.

Acta neurochirurgica
2025

Left-Leg Apraxia and Bilateral Incoordination of the Lower Limb After Left Anterior Cerebral Artery Infarction: A Case Report.

Cureus
2025

Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations.

Journal of medical genetics
2025

Sex- and age-dependent neurovascular abnormalities linked to neuroinflammation lead to exacerbated post-ischemic brain injury in Marfan syndrome mice.

Redox biology
2025

Predictive factors of de novo epilepsy in reversible splenial lesion syndrome.

Seizure
2025

Focal epilepsy with sensory seizures associated with arginine:glycine amidinotransferase deficiency: A clinical and advanced magnetic resonance imaging study.

Epilepsia
2025

KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis.

Prenatal diagnosis
2025

Heimler Syndrome: A Report of 2 Indian Children With Review of Literature.

Journal of child neurology
2025

Late Detection of Corpus Callosum Infarction in a 55-Year-Old: Insights from Alien Hand Syndrome.

The American journal of case reports
2025

Tuberculous Meningitis in a Child: A Rare Presentation of Cytotoxic Lesion of the Corpus Callosum.

Tropical medicine and infectious disease
2025

Metronidazole-induced encephalopathy and polyneuropathy.

BMJ case reports
2025

Aicardi syndrome: Clinical spectrum of a rare disorder.

Journal of family medicine and primary care
2025

Unilateral prosopometamorphopsia caused by infarction of the splenium of the corpus callosum: 4 case report and review of the literature.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2024

Reversible leukoencephalopathy with seizures: a case of severe high-altitude cerebral edema.

Acta epileptologica
2025

COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature.

Molecular genetics &amp; genomic medicine
2025

Reversible Splenial Lesion Syndrome Induced by Paracetamol and Lithium: A Report of Two Cases and Literature Review.

Cureus
2025

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks.

Annals of clinical and translational neurology
2025

A fatal case of acute Marchiafava-Bignami disease complicated by acute abdomen- a case report.

International journal of emergency medicine
2025

A Case Report of a Boy With Clinically Mild Encephalopathy and a Reversible Splenial Lesion Associated With Severe Acute Respiratory Syndrome-Coronavirus 2 Infection.

Cureus
2025

Brain Abnormalities in Prenatally Diagnosed Rubinstein-Taybi Syndrome.

Prenatal diagnosis
2025

Prenatal diagnosis and molecular cytogenetic analyses of a rare 15q21.3 and 16p11.2 microduplication family.

Molecular cytogenetics
2025

Recurrence of Susac syndrome after 20 years of remission.

Acta neurologica Belgica
2025

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

Pediatrics
2025

An 18-month-old girl with Vici syndrome: A case report study.

Molecular genetics and metabolism reports
2025

Cytotoxic Lesions of the Corpus Callosum (CLOCCs) in a Patient with Epstein-Barr Infection: A Case Report and Literature Review.

Brain sciences
2025

Case Report: Reversible alien hand syndrome caused by cerebral infarction.

Frontiers in human neuroscience
2025

Congenital Oropouche in Humans: Clinical Characterization of a Possible New Teratogenic Syndrome.

Viruses
2025

Neuroimaging of Koolen-De Vries Syndrome: A Rare Genetic Disorder.

Cureus
2025

Split-brain patients: A clinical vs experimental perspective.

Handbook of clinical neurology
2025

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

Journal of medical case reports
2025

White matter tract involvement in anarchic hand syndrome following stroke: Diffusion tensor imaging study.

Behavioural brain research
2025

Differential tissue and cellular distribution of chemokine C-C motif ligand 2 in grey/white matters of healthy and simian immunodeficiency virus infected monkey.

Brain research bulletin
2025

Along-tract white matter abnormalities and their clinical associations in recent-onset and chronic schizophrenia.

Schizophrenia (Heidelberg, Germany)
2025

Prenatal diagnosis of a de novo 17q25.3 microdeletion encompassing RAC3 and CSNK1D in a fetus associated with partial agenesis of the corpus callosum, small brain volume, micrognathia and total anomalous pulmonary venous return.

Taiwanese journal of obstetrics &amp; gynecology
2025

White matter microstructure in school-age children with down syndrome.

Developmental cognitive neuroscience
2024

Detailed Analysis of Fetal Malformations of the Supratentorial Structures of the Brain in High-Risk Pregnancies at 12-14 Gestational Weeks by Transvaginal 3D Ultrasound Examination.

Ultrasound international open
2025

Paroxysmal sympathetic hyperactivity and refractory hypotension in Guillain-Barré syndrome with autoimmune encephalitis: a case report and literature review.

Frontiers in neuroscience
2025

Neonatal Microcephaly and Central Nervous System Abnormalities During the Zika Outbreak in Rio de Janeiro.

Viruses
2025

Fulminant Form of Guillain-Barré Syndrome Complicated by Hematoma of the Corpus Callosum Occurring in the Context of Head Trauma: A Case Report.

Cureus
2025

C12ORF57: a novel principal regulator of synaptic AMPA currents and excitatory neuronal homeostasis.

bioRxiv : the preprint server for biology
2025

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

Clinical genetics
2025

Tailored Callosotomy in Third Ventricle Colloid Cyst Resection via Anterior Interhemispheric Transcallosal Approach.

World neurosurgery
2025

Severity of Clinical Symptoms of Supplementary Motor Area Syndrome Correlates with the Extent of Tumor Resection in the Brain.

Neurologia medico-chirurgica
2024

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

Frontiers in pediatrics
2025

A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus.

Molecular syndromology
2025

The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome.

bioRxiv : the preprint server for biology
2025

A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.

American journal of medical genetics. Part A
2025

Mice with 16p11.2 Deletion and Duplication Show Alterations in Biological Processes Associated with White Matter.

International journal of molecular sciences
2025

Novel Reassortants of Oropouche Virus (OROV) Are Causing Maternal-Fetal Infection During Pregnancy, Stillbirth, Congenital Microcephaly and Malformation Syndromes.

Genes
2025

Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.

Neurogenetics
2024

Case report: Reversible splenial lesion syndrome preceding the onset of multiple sclerosis.

Frontiers in immunology

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Doenças relacionadas

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Ordenadas pelo número de sintomas em comum.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).
    Clinical genetics· 2026· PMID 41858232mais citado
  2. Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.
    International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience· 2026· PMID 41839214mais citado
  3. CTNNB1-related disorders: clinical and radiological contributions from a French cohort.
    Frontiers in neurology· 2026· PMID 41789168mais citado
  4. Case Report: A female case of X-linked intellectual disability syndrome type 34 caused by a NONO frameshift variant and literature review.
    Frontiers in pediatrics· 2026· PMID 41727761mais citado
  5. Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.
    American journal of human genetics· 2026· PMID 41720098mais citado
  6. Tuberculous meningitis presenting as MERS Type II syndrome: A case report.
    Indian J Tuberc· 2026· PMID 41831926recente
  7. Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings.
    J Med Genet· 2026· PMID 41545183recente
  8. A rare variant of USP9X associated with female-restricted X-linked syndromic intellectual disability.
    Mol Biol Rep· 2025· PMID 41240171recente
  9. Some novel causes and clinical characteristics of reversible splenial lesion syndrome- found in children.
    Neurol Sci· 2025· PMID 41066056recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:52055(Orphanet)
  2. OMIM OMIM:300472(OMIM)
  3. MONDO:0010333(MONDO)
  4. GARD:12486(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q28065620(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Síndrome de agenesia do corpo caloso-perturbação do desenvolvimento intelectual-coloboma-micrognatia

ORPHA:52055 · MONDO:0010333
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
X-linked recessive
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1845446
Wikidata
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