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Disease Cobblestone Lissencephaly

Name Cobblestone Lissencephaly
Synonyms Cobblestone Complex | Cobblestone Dysplasia | Cobblestone Dysplasias | Cobblestone Lissencephalies | Dysplasia, Cobblestone | Dysplasias, Cobblestone | Lissencephalies, Cobblestone | Lissencephaly, Cobblestone | Lissencephaly Type 2
Definition 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.
Categories Congenital abnormality | Nervous system disease
MeSH® ID D054222

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Malformations of Cortical Development Has associated chemicals Has associated genes Malformations of Cortical Development, Group II Has associated chemicals Has associated genes Cobblestone Lissencephaly Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Malformations of Cortical Development Has associated chemicals Has associated genes Malformations of Cortical Development, Group II Has associated chemicals Has associated genes Lissencephaly Has associated chemicals Has associated genes Cobblestone Lissencephaly Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Malformations of Cortical Development Has associated chemicals Has associated genes Malformations of Cortical Development, Group II Has associated chemicals Has associated genes Cobblestone Lissencephaly Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Malformations of Cortical Development Has associated chemicals Has associated genes Malformations of Cortical Development, Group II Has associated chemicals Has associated genes Lissencephaly Has associated chemicals Has associated genes Cobblestone Lissencephaly Has associated chemicals Has associated genes

Top ↑ Descendants

Cobblestone Lissencephaly Has associated chemicals Has associated genes
View node Walker-Warburg Syndrome Has associated chemicals Has associated genes