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Lissencephaly due to TUBA1A mutation

Disease definition

Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.

ORPHA:171680

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q04.3
  • OMIM: 611603
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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