Term Name: Joubert syndrome 6
Synonyms: JBTS6
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.
Ontology: Human Disease [DOID:0111001]   ( DOID:0111001 )

Relationships
is a type of: Joubert syndrome