Joubert syndrome 13

Term ID

DOID:0110982

Synonyms

• JBTS13

Definition

A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/21725307

References

• OMIM:614173

Ontology

Human Disease   ( DOID:0110982 )