Visualize Submit Comment
Metadata
ID DOID:0110987
Name Joubert syndrome 18
Definition A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24.
https://www.ncbi.nlm.nih.gov/pubmed/22883145
Xrefs

OMIM:614815

Synonyms

JBTS18 [EXACT]

Parent Relationships

is_a Joubert syndrome

Add an item to the term tracker