Human genes for Joubert syndrome 1
Joubert syndrome 1 [DOID:0110980]
A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.
Synonyms: Joubert syndrome 1, DOID:0110980, cerebellooculorenal syndrome 1, cerebelloparenchymal disorder IV, CORS1 ...