DISEASES

Disease-gene associations mined from literature

Human genes for Joubert syndrome 13

Joubert syndrome 13 [DOID:0110982]

A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24.

Synonyms:  Joubert syndrome 13,  DOID:0110982,  JBTS13