Cobblestone Lissencephaly: Causes & Reasons

Possible Causes for Cobblestone Lissencephaly

Muscular Dystrophy-Dystroglycanopathy Type A3

Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Walker-Warburg syndrome. [encyclopedia.pub]

It is primarily characterized by: fetal hydrocephalus: almost always present neuronal migrational anomalies: agyria (cobblestone lissencephaly / lissencephaly type II) distinctive [radiopaedia.org]

Walker-Warburg syndrome also affects the brain; individuals with this condition typically have a brain abnormality called cobblestone lissencephaly, in which the surface of [encyclopedia.pub]

Muscular Dystrophy-Dystroglycanopathy Type C2

WWS is an autosomal recessive disorder characterized by cobblestone lissencephaly, hydrocephalus, agyria, retinal displasia, with or without encephalocele. [cloud-clone.com]

Walker-Warburg syndrome (WWS [MIM 236670]) is an autosomal recessive disorder characterized by type II (cobblestone) lissencephaly, hydrocephalus, severe cerebellar and ocular [ashg.org]

lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. [genecards.org]

Muscular Dystrophy-Dystroglycanopathy Type C4

lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. [genecards.org]

Severe mental retardation and brain malformations, most frequently cobblestone lissencephaly and cerebellar cysts, are common [ 2, 14, 15 ]. [ncbi.nlm.nih.gov]

MDDGA4 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies. [mybiosource.com]

Muscular Dystrophy-Dystroglycanopathy Type C1

Cobblestone lissencephaly, also known as “cobblestone complex,” is caused by neural overmigration, during neocortex lamination, that gives rise to disorganized cerebral and [ncbi.nlm.nih.gov]

MDDGA1 is an autosomal recessive disorder characterized by cobblestone lissencephaly, hydrocephalus, agyria, retinal displasia, with or without encephalocele. [mybiosource.com]

lissencephaly and other brain CC anomalies, eye malformations, profound mental retardation, and CC death usually in the first years of life. [genome.jp]

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]

Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Fukuyama congenital muscular dystrophy. [ghr.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]

Lissencephaly

Cobblestone lissencephaly (COB) previously designated as lissencephaly "type 2", is a brain malformation consisting of a complex cortical dysplasia with glioneuronal heterotopia [dnatesting.uchicago.edu]

Two large groups can be distinguished: classical lissencephaly (and its variants) and cobblestone lissencephaly. [orpha.net]

Cobblestone lissencephaly The clinical presentation of cobblestone lissencephaly predominantly relates to the co-occurring severe congenital muscular dystrophy. [epilepsydiagnosis.org]

Muscular Dystrophy-Dystroglycanopathy Type B5

MDDGA5 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations [abcam.com]

lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. [genecards.org]

[…] dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5) [MIM:613153]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone [genecards.org]

Miller-Dieker Syndrome

Ophthalmic manifestations are often associated with Lissencephaly, being more severe and common in Type 2 (Cobblestone) Lissencephaly [4] Classification Based on phenotypic [eyewiki.aao.org]

Type 2 lissencephaly, so-called cobblestone lissencephaly, has a granular surface with effacement of gyri. [doi.org]

Type -2, also known as cobblestone lissencephaly is associated with o-glycosylation enzyme defect and type-3 is a neurodegenerative process with abnormal apoptosis. [ijcasereportsandimages.com]

Congenital Muscular Dystrophy Type 1A

Merosin-negative CMD was distinguished through the absence of brainstem involvement, polymicrogyria or cobblestone lissencephaly in both cases. [cags.org.ae]

cobblestone lissencephaly. [medlink.com]

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet. 2012 Dec 7. 91(6):1135-43. [Medline]. [Full Text]. [emedicine.medscape.com]

Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency

cobblestone lissencephaly. [medlink.com]

lissencephaly syndromes including Fukuyama congenital muscular dystrophy, Muscle-eye-brain disease, Walker-Warburg syndrome, and isolated Cobblestone lissencephaly; b) CMD [ijponline.biomedcentral.com]

Brain MRI may demonstrate structural abnormalities (e.g., hydrocephalus, brain stem hypoplasia, cerebellar cysts) or abnormalities in neuronal migration (cobblestone lissencephaly [ncbi.nlm.nih.gov]

Amaurosis-Hypertrichosis Syndrome

Cobblestone lissencephaly in Schinzel-Giedion syndrome. J Child Neurol. 2013;28:259–63. PubMed CrossRef 61. Ko JM, Lim BC, Kim KJ, Hwang YS, Ryu HW, Lee JH, et al. [springermedizin.de]

Clin Dysmorphol 1996, 5:223-229. [27] Lach B, Arredondo J: Cobblestone lissencephaly in Schinzel-Giedion syndrome. [gooa.las.ac.cn]

Cobblestone lissencephaly in Schinzel-Giedion syndrome. J Child Neurol. 2013;28:259–63. PubMed CrossRef Google Scholar 61. [link.springer.com]

Muscular Dystrophy-Dystroglycanopathy Type B6

cobblestone lissencephaly. [medlink.com]

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet. 2012 Dec 7. 91(6):1135-43. [Medline]. [Full Text]. [emedicine.medscape.com]

Congenital Muscular Dystrophy-Dystroglycanopathy

Lissencephaly type II is also sometimes used as synonym, but is actually a broader term applying also to other similar syndromes with cobblestone lissencephaly. [ai-online.info]

Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Walker-Warburg syndrome. [encyclopedia.pub]

Brain abnormalities typically include cobblestone lissencephaly and cerebellar malformations, but hydrocephalus, Dandy-Walker malformation and encephaloceles are also regularly [ai-online.info]

Lissencephaly Type 8

Lissencephaly-pachygyria can be further divided into types I (classic) and type II (cobblestone). [radiopaedia.org]

Cobblestone lissencephaly MedGen UID: 96562 •Concept ID: C0431376 • Congenital Abnormality A form of lissencephaly characterized by an uneven cortical surface with a so called [ncbi.nlm.nih.gov]

Cobblestone Lissencephaly Without Muscular Or Ocular Involvement AR 99.97 8 of 9 LAMC3 Occipital Cortical Malformations AR 98.72 22 of 22 LARGE1 Muscular Dystrophy- Dystroglycanopathy [igenomix.es]

X-Linked Recessive Corpus Callosum Dysgenesis

LAMA2 Muscular Dystrophy Congenital Merosin- Deficient, Limb-Girdle Muscular Dystrophy, Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy AR 100 363 of 377 LAMB1 Lissencephaly [igenomix.es]

Lissencephaly Type 2

French Lissencéphalie pavimenteuse English Lissencephaly Type 2 Last Update: 2014-12-09 Usage Frequency: 2 Quality: Warning: This alignment may be wrong. [mymemory.translated.net]

French Lissencéphalie pavimenteuse English Cobblestone Lissencephaly Last Update: 2014-12-09 Usage Frequency: 2 Quality: Warning: This alignment may be wrong. [mymemory.translated.net]

Muscular Dystrophy-Dystroglycanopathy Type A1

lissencephalies. [read.qxmd.com]

Lissencephaly type II is also sometimes used as synonym, but is actually a broader term applying also to other similar syndromes with cobblestone lissencephaly. [ai-online.info]

In line with the known or proposed functions of the resolved genes, all patients with cobblestone lissencephaly show defects in the O-linked glycosylation of the glycoprotein [read.qxmd.com]

Muscular Dystrophy-Dystroglycanopathy Type A13

lissencephaly Corpus callosum, agenesis of Cortical dysplasia Global developmental delay Gray matter heterotopia Hydrocephalus Hypoplasia of the brainstem Occipital encephalocele [ncbi.nlm.nih.gov]

Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Walker-Warburg syndrome. [medlineplus.gov]

Muscular Dystrophy-Dystroglycanopathy Type A12

Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Walker-Warburg syndrome. [medlineplus.gov]

lissencephaly. 6 61 Vuillaumier-Barrot S...Seta N 23217329 2012 30 Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg [malacards.org]

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain. 2012;135:469–82. [ojrd.biomedcentral.com]

Muscular Dystrophy-Dystroglycanopathy Type A11

Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Walker-Warburg syndrome. [medlineplus.gov]

lissencephaly, hydrocephalus, hypoplastic cerebellar vermis, macrocephaly, microcephaly or anencephaly) Severe hypotonia Occasional seizures Intellectual disability Developmental [gene.vision]

Muscular Dystrophy-Dystroglycanopathy Type A10

CNS findings include cobblestone lissencephaly, cerebellar malformations, microophthalmia and cataracts. [preventiongenetics.com]

Turnaround Time 18 days on average Indications for Test Individuals with severe cobblestone lissencephaly and other symptoms consistent with Walker-Warburg syndrome. [preventiongenetics.com]

Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [genecards.org]

Muscular Dystrophy-Dystroglycanopathy Type A8

Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Walker-Warburg syndrome. [medlineplus.gov]

Walker-Warburg syndrome also affects the brain; individuals with this condition typically have a brain abnormality called cobblestone lissencephaly, in which the surface of [medlineplus.gov]

[…] the brain lacks the normal folds and grooves and instead develops a bumpy, irregular appearance (like that of cobblestones). [medlineplus.gov]

Muscular Dystrophy-Dystroglycanopathy Type A7

Definition An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations [uniprot.org]

Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Walker-Warburg syndrome. [medlineplus.gov]

CNS findings include cobblestone lissencephaly, cerebellar malformations, microophthalmia, and cataracts. [preventiongenetics.com]

Muscular Dystrophy-Dystroglycanopathy Type A6

lissencephaly Hydrocephalus Hypoplasia of the pons Intellectual disability Ventriculomegaly IMPORTANT NOTE: NIH does not independently verify information submitted to the [ncbi.nlm.nih.gov]

Definition An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations [uniprot.org]

Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Walker-Warburg syndrome. [medlineplus.gov]

Muscular Dystrophy-Dystroglycanopathy Type A5

Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Walker-Warburg syndrome. [medlineplus.gov]

Walker-Warburg syndrome also affects the brain; individuals with this condition typically have a brain abnormality called cobblestone lissencephaly, in which the surface of [medlineplus.gov]

Lissencephaly 4 with Microcephaly

Two large groups can be distinguished: classical lissencephaly (and its variants) and cobblestone lissencephaly. [orpha.net]

Mutations in distinct genes lead to overlapping forms of lissencephaly, including classic smooth lissencephaly, cobblestone lissencephaly, lissencephaly with agenesis of the [genedx.com]

Unknown No Cobblestone lissencephaly (lissencephaly type 2) AR Unknown Unknown Unknown Unknown No There are a number of subtypes of lissencephaly that are distinguished by [ourlilytree.blogspot.com]

Muscular Dystrophy-Dystroglycanopathy Type A4

Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Fukuyama congenital muscular dystrophy. [ghr.nlm.nih.gov]

Researchers believe that this problem with neuronal migration causes a brain abnormality called cobblestone lissencephaly, in which the surface of the brain lacks the normal [selfdecode.com]

Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Walker-Warburg syndrome. [medlineplus.gov]

Marginal Glioneuronal Heterotopia

Lissencephaly is separated into two pathologic subtypes: type 1 or classic and type II or cobblestone lissencephaly. [clinicalgate.com]

Cobblestone cortex (type 2 lissencephaly) This MCD is distinct from type 1 (classic) lissencephaly. [neuropathology-web.org]

[…] type I: subcortical band heterotopia spectrum (band heterotopia): under migration lissencephaly type II (cobblestone complex): over migration Group II.C subcortical heterotopia [radiopaedia.org]

Pachygyria-Mental Retardation-Seizures

An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound [nectarmutation.org]

Classical or type I lissencephaly differs from type II or cobblestone lissencephaly. [encyclopedia.com]

Cobblestone cortex Cobblestone cortex. Type 2 lissencephaly in a patient with the Walker-Warburg syndrome. Cobblestone cortex Cobblestone cortex. [neuropathology-web.org]

Neuronal Migration Defect

Two large groups can be distinguished: classical lissencephaly (and its variants) and cobblestone lissencephaly. [orpha.net]

Classical lissencephaly results from an arrest of neuronal migration, whereas cobblestone lissencephaly results from overmigration. [ingentaconnect.com]

Classical or type I lissencephaly differs from type II or cobblestone lissencephaly. [encyclopedia.com]