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Disease association ontology term - MONDO:0017091 - bilateral polymicrogyria

Term summary

ID
MONDO:0017091
Name
bilateral polymicrogyria
Ontology or CV name
Disease association
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.

Parents

Annotation

Disease association

MONDO:0012986 - bilateral parasagittal parieto-occipital polymicrogyria

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Genes:

MONDO:0012399 - complex cortical dysplasia with other brain malformations 7

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MONDO:0014679 - polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

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