Agenesis of Corpus Callosum
"Agenesis of Corpus Callosum" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
| Descriptor ID |
D061085
|
| MeSH Number(s) |
C10.500.034 C16.131.666.034 C23.300.008
|
| Concept/Terms |
Agenesis of Corpus Callosum- Agenesis of Corpus Callosum
- Corpus Callosum Ageneses
- Corpus Callosum, Agenesis Of
- Corpus Callosum Dysgenesis
- Corpus Callosum Dysgeneses
- Dysgeneses, Corpus Callosum
- Dysgenesis, Corpus Callosum
- Absence of Corpus Callosum
- Corpus Callosum Absence
- Corpus Callosum Absences
- Corpus Callosum Agenesis
- Ageneses, Corpus Callosum
- Agenesis, Corpus Callosum
- Corpus Callosum Hypogenesis
- Corpus Callosum Hypogeneses
- Hypogeneses, Corpus Callosum
- Hypogenesis, Corpus Callosum
|
Below are MeSH descriptors whose meaning is more general than "Agenesis of Corpus Callosum".
Below are MeSH descriptors whose meaning is more specific than "Agenesis of Corpus Callosum".
This graph shows the total number of publications written about "Agenesis of Corpus Callosum" by people in this website by year, and whether "Agenesis of Corpus Callosum" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 0 | 1 | 1 |
| 1997 | 0 | 1 | 1 |
| 2000 | 1 | 0 | 1 |
| 2004 | 0 | 1 | 1 |
| 2005 | 1 | 0 | 1 |
| 2007 | 0 | 1 | 1 |
| 2008 | 1 | 1 | 2 |
| 2010 | 0 | 1 | 1 |
| 2011 | 2 | 0 | 2 |
| 2014 | 1 | 0 | 1 |
| 2016 | 2 | 0 | 2 |
| 2018 | 0 | 1 | 1 |
| 2019 | 1 | 0 | 1 |
| 2020 | 0 | 1 | 1 |
| 2021 | 0 | 1 | 1 |
| 2022 | 0 | 2 | 2 |
| 2023 | 0 | 1 | 1 |
| 2024 | 0 | 1 | 1 |
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Below are the most recent publications written about "Agenesis of Corpus Callosum" by people in Profiles.
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MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability. Am J Med Genet A. 2025 Jan; 197(1):e63868.
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Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects. Brain. 2023 04 19; 146(4):1373-1387.
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Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. Am J Med Genet A. 2022 05; 188(5):1497-1514.
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Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series. Prenat Diagn. 2022 04; 42(4):484-494.
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Neuropsychological functioning in dysgenesis of the corpus callosum with colpocephaly. Appl Neuropsychol Adult. 2022 Nov-Dec; 29(6):1681-1687.
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Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa). Am J Med Genet A. 2021 03; 185(3):990-994.
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Agenesis of the corpus callosum and hepatoblastoma. Am J Med Genet A. 2020 01; 182(1):224-228.
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Accuracy of prenatal ultrasound in the diagnosis of corpus callosum anomalies. J Matern Fetal Neonatal Med. 2021 Feb; 34(3):439-444.
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Megalin mediates plasma membrane to mitochondria cross-talk and regulates mitochondrial metabolism. Cell Mol Life Sci. 2018 Nov; 75(21):4021-4040.
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A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. Am J Med Genet A. 2017 Mar; 173(3):611-617.