DISEASES

Disease-gene associations mined from literature

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,  CORS1,  CPD4,  JBTS1 ...