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Polymicrogyria with or without vascular-type ehlers-danlos syndrome

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Description

Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome is an autosomal recessive disorder with a highly variable phenotype. Although all patients have polymicrogyria and other variable structural brain anomalies on imaging, only some show developmental delay and/or seizures. Similarly, only some patients have connective tissue defects that particularly affect the vascular system and can result in early death (summary by Vandervore et al., 2017).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

22

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Genes

External Links

  • OMIM

    618343

  • Orphanet
  • HPO
  • Medgen

    C5193040

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