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Holoprosencephaly

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.

ORPHA:2162

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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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.