Severe oculo-renal-cerebellar syndrome

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Severe oculo-renal-cerebellar syndrome

Synonyms: Hunter-Jurenka-Thompson syndrome | ORC syndrome | Oculorenocerebellar syndrome

A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability choreoathetosis progressive spastic diplegia progressive tapetoretinal degeneration with loss of retinal vessels and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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