Term Name: Joubert syndrome 1
Synonyms: cerebellooculorenal syndrome 1, cerebelloparenchymal disorder IV, CORS1, CPD4, JBTS1
Definition: A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.
Ontology: Human Disease [DOID:0110980]   ( DOID:0110980 )

Relationships
is a type of: Joubert syndrome
inverse disjoint_from: Joubert syndrome with orofaciodigital defect