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342 Possible Causes for Dysgenesis or Agenesis of the Corpus Callosum

  • Anophthalmos

    corpus callosum.[ncbi.nlm.nih.gov] In these patients, MR images showed hypoplasia of the optic chiasm and posterior visual pathways (n 3), agenesis (n 1) or dysgenesis of the corpus callosum (n 2), and a mass[ncbi.nlm.nih.gov] In our patients, bilateral anophthalmos was associated with absence of the optic chiasm, diminished size of the posterior optic pathways, and agenesis or dysgenesis of the[ncbi.nlm.nih.gov]

  • Carotid Artery Occlusion

    agenesis of the corpus callosum, hippocampal atrophy, polymicrogyria, pachygyria, subarachnoid cysts, and periventricular heterotopias.[ 3 ] Despite rare, the association[surgicalneurologyint.com] 11 ] cortical dysplasia, cursing or not with epilepsy,[ 22 ] microcephaly, cerebellar atrophy, Dandy–Walker malformation, Arnold–Chiari malformation, syringohydromyelia, dysgenesis[surgicalneurologyint.com]

  • Familial Recurrent Peripheral Facial Palsy

    callosum agenesis-abnormal genitalia syndrome Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Corpus callosum agenesis-neuronopathy syndrome[se-atlas.de] callosum agenesis/dysgenesis as a major feature Genetic syndrome with limb malformations as a major feature Genetic syndrome with limb reduction defects Genetic syndromic[orpha.net] callosum agenesis/dysgenesis as a major feature Genitopatellar syndrome Gerstmann-Straussler-Scheinker syndrome Giant axonal neuropathy Global developmental delay-osteopenia-ectodermal[se-atlas.de]

  • Aqueduct of Sylvius Anomaly

    […] or agenesis of the corpus callosum include absence of, or a malformed corpus callosum (Figure 15), and parallel orientation of the lateral ventricles; normally the frontal[appliedradiology.com] Dandy-Walker complex, Chiari II malformation, numerous syndromes, and the absence may be accompanied by seizure disorders and mental retardation. 6, 7 Radiographic findings of dysgenesis[appliedradiology.com]

  • Progressive Myoclonic Epilepsy Type 7

    callosum agenesis-abnormal genitalia syndrome Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Cortical dysplasia-focal epilepsy syndrome Craniotelencephalic[se-atlas.de] […] anomalies Congenital neuronal ceroid lipofuscinosis Congenital toxoplasmosis Constitutional megaloblastic anemia with severe neurologic disease Corneal-cerebellar syndrome Corpus[se-atlas.de]

  • Unverricht-Lundborg Syndrome

    […] of the corpus callosum with peripheral neuropathy SLC12A6 Aicardi-Goutieres syndrome type 1 TREX1 Aicardi-Goutieres syndrome type 2 RNASEH2B Aicardi-Goutieres syndrome type[centogene.com] Congenital myopathy panel ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2,... 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy DHH Achalasia addisonianism alacrimia[centogene.com] Acyl-CoA peroxisomal oxidase deficiency ACOX1 Adrenoleukodystrophy, x-linked ABCD1 Adrenoleukodystrophy, x-linked PLXNB3 Adrenoleukodystrophy/Adrenomyeloneuropathy ABCD1 Agenesis[centogene.com]

  • Progressive Myoclonic Epilepsy Type 3

    […] of the corpus callosum with peripheral neuropathy SLC12A6 Aicardi-Goutieres syndrome type 1 TREX1 Aicardi-Goutieres syndrome type 2 RNASEH2B Aicardi-Goutieres syndrome type[centogene.com] CentoDx Trio Plus Targets exonic regions of 6700 genes... 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy DHH Achalasia addisonianism alacrimia syndrome[centogene.com] Acyl-CoA peroxisomal oxidase deficiency ACOX1 Adrenoleukodystrophy, x-linked ABCD1 Adrenoleukodystrophy, x-linked PLXNB3 Adrenoleukodystrophy/Adrenomyeloneuropathy ABCD1 Agenesis[centogene.com]

  • Progressive Myoclonic Epilepsy Type 8

    […] of the corpus callosum with peripheral neuropathy SLC12A6 Aicardi-Goutieres syndrome type 1 TREX1 Aicardi-Goutieres syndrome type 2 RNASEH2B Aicardi-Goutieres syndrome type[centogene.com] CentoDx Trio Plus Targets exonic regions of 6700 genes... 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy DHH Achalasia addisonianism alacrimia syndrome[centogene.com] Acyl-CoA peroxisomal oxidase deficiency ACOX1 Adrenoleukodystrophy, x-linked ABCD1 Adrenoleukodystrophy, x-linked PLXNB3 Adrenoleukodystrophy/Adrenomyeloneuropathy ABCD1 Agenesis[centogene.com]

  • Coronary Cataract

    Neurological findings include microcephaly with cerebral dysgenesis and demyelinization, agenesis of the corpus callosum, and cerebellar vermis dysgenesis.[entokey.com]

  • Aicardi's Syndrome

    […] distinctive chorioretinal lacunae : pathognomonic Characteristic malformations affect the brain, spine and eyes and include: brain agenesis of the corpus callosum colpocephaly[radiopaedia.org] People with Aicarid syndrome do not have or have undeveloped tissue that connects the left and right halves of the brain the dysgenesis of the corpus callosum or agenesis.[healthlifemedia.com] People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum ).[ghr.nlm.nih.gov]

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