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Alobar holoprosencephaly

ORPHA93925
Synonym(s) -
Prevalence 1-9 / 100 000
Inheritance Multigenic/multifactorial
or Not applicable
Age of onset Infancy
Neonatal
ICD-10
  • Q04.2
OMIM -
UMLS
  • C0431363
MeSH -
MedDRA -

Summary

Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure.

About 15% to 25% of non-chromosomal HPE patients have alobar 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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