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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.


Classification level: Subtype of disorder
  • Synonym(s):
    • PVNH
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked dominant 
  • Age of onset: Childhood
  • ICD-10: Q04.8
  • ICD-11: LA05.5Y
  • OMIM: 300049  608097  608098  612881  615544  617201  618185  618918
  • UMLS: C1868720
  • MeSH: D054091
  • GARD: 12724
  • MedDRA: 10066854

Detailed information

Disease review articles

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.