loading...| Preferred Name | Lissencephaly 1 | |
| Synonyms |
LIS1 |
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| Definitions |
(LIS1) - A classical lissencephaly. It is characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six- layered cortex. The cortex is abnormally thick and poorly organized with 4 primitive layers. Associated with enlarged and dysmorphic ventricles and often hypoplasia of the corpus callosum. - (SBH) - SBH is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal. |
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| ID |
http://identifiers.org/omim/607432 |
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| altLabel |
LIS1 |
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| definition |
(LIS1) - A classical lissencephaly. It is characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six- layered cortex. The cortex is abnormally thick and poorly organized with 4 primitive layers. Associated with enlarged and dysmorphic ventricles and often hypoplasia of the corpus callosum. - (SBH) - SBH is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal. |
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| id |
OMIM:607432 |
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| notation |
OMIM:607432 |
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| prefLabel |
Lissencephaly 1 |
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| subClassOf |