loading...| Preferred Name |
Schizencephaly |
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| Synonyms |
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| Definitions |
A rare developmental defect during embryogenesis characterized by the presence of linear clefts containing cerebrospinal fluid lined by abnormal grey matter that extend from the lateral ventricles to the pial surface of the cortex. Schizencephaly can involve one or both cerebral hemispheres and may lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_799 |
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| definition |
A rare developmental defect during embryogenesis characterized by the presence of linear clefts containing cerebrospinal fluid lined by abnormal grey matter that extend from the lateral ventricles to the pial surface of the cortex. Schizencephaly can involve one or both cerebral hemispheres and may lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=799 |
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| has_age_of_onset |
All ages |
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| has_inheritance |
Autosomal recessive Autosomal dominant |
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| hasDbXref |
MedDRA:10073487 ICD-10:Q04.6 MeSH:D065707 UMLS:C0266484 ICD-11:LA05.61 OMIM:269160 |
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| label |
Schizencephaly |
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| notation |
ORPHA:799 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_269190 |
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| prefixIRI |
ORDO:Orphanet_799 |
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| prefLabel |
Schizencephaly |
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| present_in |
United Kingdom AND has_birth_prevalence_average_value : 1.48 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 1.54 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown Japan AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_269190 |
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| subClassOf |