loading...| Preferred Name | Subcortical band heterotopia | |
| Synonyms |
Subcortical laminar heterotopia |
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| Definitions |
A rare, non-syndromic cerebral malformation due to abnormal neuronal migration characterized by variable clinical manifestation depending on the location, size and thickness of subcortical bands. Clinical presentation ranges from mild cognitive deficit to developmental delay with severe intellectual disability, seizures and behavioral problems. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_99796 |
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| alternative_term |
Subcortical laminar heterotopia |
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| definition |
A rare, non-syndromic cerebral malformation due to abnormal neuronal migration characterized by variable clinical manifestation depending on the location, size and thickness of subcortical bands. Clinical presentation ranges from mild cognitive deficit to developmental delay with severe intellectual disability, seizures and behavioral problems. |
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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=99796 |
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| hasDbXref |
OMIM:600348 UMLS:C1848201 ICD-10:Q04.3 OMIM:300067 ICD-11:LD20.1 OMIM:607432 |
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| label |
Subcortical band heterotopia |
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| notation |
ORPHA:99796 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_99796 |
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| prefLabel |
Subcortical band heterotopia |
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| treeView | ||
| subClassOf |