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Human Disease

Joubert syndrome 16

Term ID
DOID:0110985
Synonyms
  • JBTS16
Definition
A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. https://www.ncbi.nlm.nih.gov/pubmed/22282472
References
Ontology
Human Disease   ( DOID:0110985 )
Relationships
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Genes Involved
Zebrafish Models