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Tubulinopathy-associated dysgyria

Disease definition

A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia, and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures, and behavioral problems.


Classification level: Disorder
  • Synonym(s):
    • Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Autosomal dominant 
  • Age of onset: Infancy
  • ICD-10: Q04.8
  • OMIM: -
  • UMLS: C5568850
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

General public

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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