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1,179 Possible Causes for Lissencephaly

  • Lissencephaly

    Comparison of this case with a sporadically occurring case of lissencephaly, with different cortical morphology, suggests that lissencephaly may be an example of either varying[ncbi.nlm.nih.gov] In addition to these four entities, isolated lissencephalies without a known genetic defect, lissencephalies with severe microcephaly (microlissencephaly) and lissencephalies[orpha.net] From Wikidata Jump to navigation Jump to search congenital disorder of nervous system Lissencephaly Nerve cell migration disorder Neuronal migration defect edit English lissencephaly[wikidata.org]

  • Congenital Muscular Dystrophy

    We describe four new patients with FKTN mutations and phenotypes ranging from: severe WWS in a Greek-Croatian patient, to congenital muscular dystrophy and cobblestone lissencephaly[ncbi.nlm.nih.gov] There was no brainstem involvement, polymicrogyria or cobblestone lissencephaly in both of our cases which allowed differentiation of merosin-negative CMD from other CMDs.[ncbi.nlm.nih.gov] Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Fukuyama congenital muscular dystrophy.[ghr.nlm.nih.gov]

  • Subcortical Band Heterotopia

    After excluding lissencephaly-related genes, one deleterious mutation (NM_178153.2:c.665C T, p.Thr222Ile) in the DCX gene was identified.[ncbi.nlm.nih.gov] To study the genetics and functional alteration of a family with X-linked lissencephaly and subcortical band heterotopia.[ncbi.nlm.nih.gov] The doublecortin (DCX) gene was recently found to be involved in patients with X-linked lissencephaly and subcortical band heterotopia or double cortex syndrome.[ncbi.nlm.nih.gov]

  • Miller Dieker Syndrome

    Lissencephaly is a rare condition.[doi.org] Miller-Dieker syndrome MDS Miller-Dieker lissencephaly syndrome Telomeric deletion 17p Monosomy 17p13.3 Lissencephaly due to 17p13.3 deletion edit English Miller–Dieker lissencephaly[wikidata.org] These data thus confirm LIS1 as the gene responsible for classical lissencephaly in ILS and MDS.[ncbi.nlm.nih.gov]

  • Baraitser-Winter Syndrome 1

    Dobyns, Lissencephaly: Expanded imaging and clinical classification, American Journal of Medical Genetics Part A, 173, 6, (1473-1488), (2017). D. Baux, C. Vaché, C.[doi.org] The additional presence of cortical malformations (pachygyria/lissencephaly) and ocular colobomata are also suggestive of this syndrome.[doi.org] Only one of seven patients was clinically diagnosed with this disorder and underwent ACTB/ACTG1 targeted sequencing, four patients were screened as a part of the large lissencephaly[doi.org]

  • Autosomal Recessive Frontotemporal Pachygyria

    Syndromes with lissencephaly. I: Miller-Dieker and Norman Roberts syndromes and isolated lissencephaly. Am J Med Genet. 1984;18:509-26. Garcia CA, et al.[rarediseases.org] recessive frontotemporal pachygyria Autosomal recessive metabolic cerebellar ataxia Autosomal recessive spastic ataxia Autosomal recessive spastic ataxia of Charlevoix-Saguenay[se-atlas.de] […] with lissencephaly include: persisting spasms focal seizures tonic seizures atypical seizures atonic seizures [1] Other possible symptoms of lissencephaly include telecanthus[en.wikipedia.org]

  • Polymicrogyria

    Mutations of TUBA1A gene were first identified as causing a distinctive neuroradiologic phenotype characterized by cortical abnormalities ranging from classical lissencephaly[ncbi.nlm.nih.gov] Mutations in the ARX gene, at Xp22.3, cause several disorders, including infantile spasms, X-linked lissencephaly with abnormal genitalia (XLAG), callosal agenesis and isolated[ncbi.nlm.nih.gov] Abstract Human cortical malformations, including lissencephaly, polymicrogyria and other diseases of neurodevelopment, have been associated with mutations in microtubule subunits[ncbi.nlm.nih.gov]

  • Hypogonadism

    Abstract Patients with X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of[ncbi.nlm.nih.gov] The cranial magnetic resonance imaging of the patient showed lissencephaly, agenesis of the corpus callosum, and enlarged ventricles. His karyotype was 46, XY.[ncbi.nlm.nih.gov]

  • Ohtahara Syndrome

    Both patients have normal genitalia and neither have lissencephaly.[ncbi.nlm.nih.gov] […] to be causative for Ohtahara syndrome without brain malformation, whereas premature termination mutations of ARX were found to cause severe brain malformations, such as lissencephaly[ncbi.nlm.nih.gov] A mouse model that recapitulates X-linked lissencephaly with ambiguous genitalia (XLAG) is far from elucidating the substrate for phenotypes that different ARX mutations cause[ncbi.nlm.nih.gov]

  • Vaginospasm

    LIPOSUCTION TreatmentOrProcedure LIPOSYNOVITIS DiagnosisOrProblem LIPPING SymptomOrSign LIQUEFACTION DiagnosisOrProblem LISFRANC TreatmentOrProcedure LISPING DiagnosisOrProblem LISSENCEPHALY[phillipodam.wordpress.com]

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