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Lissencephaly type 1 due to doublecortin gene mutation

Disease definition

Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.

ORPHA:2148

  • Synonym(s):
    • X-linked lissencephaly type 1
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal, Childhood, Adolescent
  • ICD-10: Q04.3
  • OMIM: 300067
  • UMLS: C1848199
  • MeSH: -
  • GARD: -
  • MedDRA: -

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