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Microlissencephaly

Disease definition

Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.

ORPHA:1083

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.3
  • OMIM: 614019  616212
  • UMLS: C1956147
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

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