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Human Disease

Joubert syndrome 24

Term ID
DOID:0110993
Synonyms
  • JBTS24
Definition
A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. (2)
References
Ontology
Human Disease   ( DOID:0110993 )
Relationships
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Genes Involved
Zebrafish Models