Preferred Name | Lissencephaly, X-linked 1 | |
Synonyms |
Subcortical band heterotopia X-linked |
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Definitions |
(LISX1): A classic lissencephaly characterized by mental retardation and seizures that are more severe in male patients. Affected boys show an abnormally thick cortex with absent or severely reduced gyri. Clinical manifestations include feeding problems, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe phenotype referred to as 'doublecortex'.(SBHX): SBHX 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. |
|
ID |
http://purl.obolibrary.org/obo/OMIM_300067 |
|
definition |
(LISX1): A classic lissencephaly characterized by mental retardation and seizures that are more severe in male patients. Affected boys show an abnormally thick cortex with absent or severely reduced gyri. Clinical manifestations include feeding problems, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe phenotype referred to as 'doublecortex'.(SBHX): SBHX 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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has_obo_namespace |
cell_cycle_ontology |
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has_related_synonym |
Subcortical band heterotopia X-linked |
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id |
OMIM:300067 |
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label |
Lissencephaly, X-linked 1 |
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notation |
OMIM:300067 |
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prefLabel |
Lissencephaly, X-linked 1 |
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treeView | ||
subClassOf |
Delete | Mapping To | Ontology | Source |
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http://purl.bioontology.org/ontology/OMIM/300067 | OMIM | LOOM | |
http://identifiers.org/omim/300067 | REXO | LOOM | |
http://identifiers.org/omim/300067 | GEXO | LOOM | |
http://identifiers.org/omim/300067 | RETO | LOOM |