GTR Home > Conditions/Phenotypes > X-linked periventricular heterotopia

Disease characteristics

Excerpted from the GeneReview: X-Linked Periventricular Heterotopia
X-linked periventricular heterotopia (PH), a neuronal migration disorder, is characterized by the presence of uncalcified nodules of neurons ectopically situated along the surface of the lateral ventricles. Affected individuals are predominantly heterozygous females; males show early lethality. Affected females present with seizures at an average age of 14-15 years; intelligence ranges from normal to borderline. The risk for stroke and other vascular/coagulation problems appears to be increased.

Associated genes

  • Also known as: XX-FW83128A1.1, ABP-280, ABPX, CSBS, CVD1, FLN, FLN-A, FLN1, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD, FLNA
    Summary: filamin A, alpha

Clinical features

  • Stroke
  • Seizure
  • Intellectual disability, mild
  • Patent ductus arteriosus
  • Bicuspid aortic valve
  • Abnormality of neuronal migration
  • Heterotopia
  • Abnormality of the coagulation cascade
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