Joubert syndrome 5 (JBTS5)

Genetics

• autosomal recessive
• associated with defects in NPHP1

Clinical manifestations

• see Joubert syndrome
• features of Joubert syndrome together with
  • severe retinal dystrophy &/or
  • progressive renal failure characterized by nephronophthisis

More general terms

• Joubert syndrome

Database

• OMIM: https://mirror.omim.org/entry/610188