Term Name: Joubert syndrome 13
Synonyms: JBTS13
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24.
Ontology: Human Disease [DOID:0110982]   ( DOID:0110982 )

Relationships
is a type of: Joubert syndrome