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Periventricular nodular heterotopia

Disease definition

Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.

ORPHA:98892

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked dominant 
  • Age of onset: -
  • ICD-10: Q04.8
  • OMIM: 300049  608097  608098  612881  615544  617201
  • UMLS: C1868720
  • MeSH: D054091
  • GARD: 12724
  • MedDRA: 10066854

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