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Subcortical band heterotopia

Disease definition

A rare, non-syndromic cerebral malformation due to abnormal neuronal migration characterized by variable clinical manifestation depending on the location, size and thickness of subcortical bands. Clinical presentation ranges from mild cognitive deficit to developmental delay with severe intellectual disability, seizures and behavioral problems.

ORPHA:99796

Classification level: Disorder
  • Synonym(s):
    • Subcortical laminar heterotopia
  • Prevalence: -
  • Inheritance: Autosomal recessive or X-linked recessive or Unknown 
  • Age of onset: -
  • ICD-10: Q04.3
  • OMIM: 300067  600348  607432
  • UMLS: C1848201
  • MeSH: -
  • GARD: 1904
  • MedDRA: -

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