Orphanet: Lobar holoprosencephaly
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Lobar holoprosencephaly

Disease definition

A form of holoprosencephaly characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity only across the frontal neocortex, especially rostrally and ventrally. Craniofacial features are variable may include ocular hypotelorism, midline cleft lip (complete or partial) and/or flat nose amongst other features.

ORPHA:93924

Classification level: Subtype of disorder
  • 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: -

Detailed information

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