Orphanet: Tubulinopathy associated dysgyria

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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.

ORPHA:467166

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: -

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Tubulinopathy-associated dysgyria

ORPHA:467166

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

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