A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy obesity polydactyly genitourinary and kidney anomalies learning disability and hypogonadism with a wide spectrum of other minor manifestations.
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 March 2024
Newly diagnosed with
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