loading...| Preferred Name |
Bilateral polymicrogyria |
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| Synonyms |
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| Definitions |
Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_268940 |
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| definition |
Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection. |
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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=268940 |
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| has_age_of_onset |
Infancy Neonatal |
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| hasDbXref |
OMIM:612691 ICD-11:LA05.50 OMIM:615752 ICD-10:Q04.3 OMIM:606854 OMIM:616531 UMLS:C4707565 OMIM:300388 |
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| label |
Bilateral polymicrogyria |
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| notation |
ORPHA:268940 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_268940 |
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| prefLabel |
Bilateral polymicrogyria |
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| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
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| treeView | ||
| subClassOf |