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Microlissencephaly

Orpha number ORPHA1083
Synonym(s) -
Prevalence Unknown
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q04.3
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Microlissencephaly is a type of lissencephaly characterized by the presence of a severe microcephaly. Prevalence is unknown. They result from an abnormal neuronal proliferation or survival combined to neuronal migration disorders. Two main types of microlissencephalies are recognized: the type A (previously called the Norman-Roberts syndrome with no infratentorial anomalies and the type B (or Barth syndrome), which is associated with a severe hypoplasia of the cerebellum and corpus callosum.

Expert reviewer(s)

  • Pr Alain VERLOES

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