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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Joubert syndrome with renal defect?
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Joubert Syndrome and Related Disorders Foundation
Our mission is to support those affected by Joubert syndrome and related disorders by providing C.A.R.E. - Connection, Awareness, Research, and Education.
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National Ataxia Foundation
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Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
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For a list of clinical trials in this disease area, please click here.