Term Name: Joubert syndrome 27
Synonyms: JBTS27
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11.
Ontology: Human Disease [DOID:0110996]   ( DOID:0110996 )

Relationships
is a type of: Joubert syndrome