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Semilobar holoprosencephaly

Disease definition

Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.

ORPHA:220386

  • 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: C0751617
  • MeSH: -
  • GARD: -
  • MedDRA: -

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