Term Name: Joubert syndrome 28
Synonyms: JBTS28
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23.
Ontology: Human Disease [DOID:0110997]   ( DOID:0110997 )

Relationships
is a type of: Joubert syndrome