Term Name: Joubert syndrome 21
Synonyms: JBTS21
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13.
Ontology: Human Disease [DOID:0110990]   ( DOID:0110990 )

Relationships
is a type of: Joubert syndrome