Contents

Search

Joubert syndrome 5 (JBTS5)

Genetics: 1) autosomal recessive 2) associated with defects in NPHP1 Clinical manifestations: 1) see Joubert syndrome 2) features of Joubert syndrome together with a) severe retinal dystrophy &/or b) progressive renal failure characterized by nephronophthisis

General

Joubert syndrome

Database Correlations

OMIM 610188

References

  1. OMIM :accession 610188