Orphanet: Polymicrogyria due to TUBB2B mutation
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Polymicrogyria due to TUBB2B mutation

Disease definition

A rare, genetic, central nervous system malformation characterized by generalized or focal polmicrogryia-like cortical dysplasia and simplified gyral pattern, or alternatively by microlissencephaly and agenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy).

ORPHA:300573

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.3
  • OMIM: 610031
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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