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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

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

  A summary on this disease is available in Español (2015) Italiano (2015) Nederlands (2015) Deutsch (2004)

Detailed information

Disease review articles

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.