Term Name: Joubert syndrome 15
Synonyms: JBTS15
Definition: A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32.
Ontology: Human Disease [DOID:0110984]   ( DOID:0110984 )

Relationships
is a type of: digenic disease Joubert syndrome