DISEASES

Disease-gene associations mined from literature

Human genes for Joubert syndrome 20

Joubert syndrome 20 [DOID:0110989]

A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.

Synonyms:  Joubert syndrome 20,  DOID:0110989,  JBTS20