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DeCS
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Descritor Inglês:
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Cobblestone Lissencephaly
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Descritor Espanhol:
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Lisencefalia de Cobblestone
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Descritor Português:
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Lissencefalia Cobblestone
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Sinônimos Inglês:
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Cobblestone Complex
Cobblestone Dysplasia
Cobblestone Dysplasias
Cobblestone Lissencephalies
Dysplasia, Cobblestone
Dysplasias, Cobblestone
Lissencephalies, Cobblestone
Lissencephaly Type 2
Lissencephaly, Cobblestone
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Categoria:
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C10.500.507.450.249
C10.500.507.450.499.249
C16.131.666.507.450.249
C16.131.666.507.450.499.249
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Definição Inglês:
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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. |
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Nota Histórica Inglês:
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2008
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Qualificadores Permitidos Inglês:
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Número do Registro:
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52596
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Identificador Único:
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D054222
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Ocorrência na BVS:
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Similar:
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DeCS
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