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Bilateral polymicrogyria

Disease 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.

ORPHA:268940

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q04.3
  • OMIM: 300388  606854  612691  615752  616531
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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