Term Name: Joubert syndrome 34
Synonyms: JBTS34
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D2 gene on chromosome 19q13.2.
Ontology: Human Disease [DOID:0061336]   ( DOID:0061336 )

Relationships
is a type of: autosomal recessive disease Joubert syndrome