(Q32145858)

English

Joubert syndrome with renal defect

Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy

  • JBTS4
  • Joubert syndrome type 4
  • JS-R
  • JOUBERT SYNDROME 4; JBTS4
  • Joubert syndrome 4
  • Joubert syndrome with renal anomalies

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