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Lobar holoprosencephaly

Disease definition

Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.

ORPHA:93924

  • Synonym(s): -
  • Prevalence: 1-9 / 100 000
  • Inheritance: Multigenic/multifactorial or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.2
  • OMIM: 157170  609637  610829
  • UMLS: C0431362
  • MeSH: -
  • GARD: -
  • MedDRA: -

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