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Disease definition

A rare complex brain malformation characterized by incomplete cleavage of the prosencephalon, and affecting both the forebrain and face and resulting in neurological manifestations and facial anomalies of variable severity.


Classification level: Disorder
  • Synonym(s):
    • HPE
  • Prevalence: Unknown
  • Inheritance: Oligogenic or Multigenic/multifactorial or Not applicable or Autosomal recessive or X-linked dominant 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q04.2
  • OMIM: 142945  142946  147250  157170  236100  605934  609408  609637  610828  610829  612530  614226
  • UMLS: C0079541  C3711749
  • MeSH: D016142
  • GARD: 6665
  • MedDRA: 10056304

Detailed information


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