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Semilobar holoprosencephaly

Orpha number ORPHA220386
Synonym(s) -
Prevalence 1-9 / 100 000
Inheritance
  • Sporadic
  • Multigenic/multifactorial
Age of onset Neonatal/infancy
ICD-10
  • Q04.2
OMIM -
UMLS
  • C0751617
MeSH -
MedDRA -
SNOMED CT
  • 253138008

Summary

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.

About 28% to 54% of HPE patients have semilobar type.

Significant clinical variability and genetic complexity underlie HPE.

Expert reviewer(s)

  • Dr Sandra MERCIER
  • Pr Sylvie ODENT

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Detailed information

Summary information
Guidance for genetic testing
  • EN (2010,pdf)
Clinical genetics review
  • EN (2013)
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