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Septopreoptic holoprosencephaly

Disease definition

Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion.

ORPHA:280195

  • Synonym(s):
    • Septopreoptic HPE
  • Prevalence: Unknown
  • Inheritance: Multigenic/multifactorial 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.2
  • OMIM: 157170  609637  610829
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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