Term Name: Joubert syndrome 9
Synonyms: JBTS9
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.
Ontology: Human Disease [DOID:0111004]   ( DOID:0111004 )

Relationships
is a type of: digenic disease Joubert syndrome