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Ontology Browser

Term:
Cobblestone Lissencephaly (DOID:9003328)
Annotations: Rat: (34) Mouse: (34) Human: (37) Chinchilla: (32) Bonobo: (33) Dog: (33) Squirrel: (33) Pig: (33)
Parent Terms Term With Siblings Child Terms
lissencephaly +     
Baraitser-Winter syndrome +   
Classical Lissencephalies and Subcortical Band Heterotopias +   
Cobblestone Lissencephaly +   
The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease.
Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia 
Frontotemporal Pachygyria 
lissencephaly 1  
lissencephaly 10  
lissencephaly 3 +   
lissencephaly 5  
lissencephaly 7 with cerebellar hypoplasia  
lissencephaly 8  
lissencephaly 9 with complex brainstem malformation  
Massa Casaer Ceulemans Syndrome 
Mental Retardation, Autosomal Recessive 34, with variant lissencephaly  
microlissencephaly +   
Miller-Dieker lissencephaly syndrome  
Norman-Roberts syndrome  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Partial Lissencephaly 
Winter Harding Hyde Syndrome 

Synonyms
Exact Synonyms: Cobblestone Complex ;   Cobblestone Dysplasia ;   Cobblestone Dysplasias ;   Cobblestone Lissencephalies ;   Lissencephaly Type 2
Primary IDs: MESH:D054222 ;   RDO:0007666
Definition Sources: MESH:D054222

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