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

• OMIM:614465

Ontology

Human Disease   ( DOID:0110985 )