Tubulinopathy-Associated Dysgyria

Alias:
Brain Stem Asymmetry-Superior Cerebellar and Basal Ganglia Dysplasia Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Tubulinopathy-Associated Dysgyria, also known as brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome, is related to fourth cranial nerve palsy and tukel syndrome. An important gene associated with Tubulinopathy-Associated Dysgyria is TUBA1A (Tubulin Alpha 1a), and among its related pathways/superpathways are Signaling by Rho GTPases and Class I MHC mediated antigen processing and presentation. Affiliated tissues include brain and cerebellum, and related phenotypes are global developmental delay and microcephaly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Infant
<1/1000000
3
23
21

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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