Severe oculo-renal-cerebellar syndrome

Orpha code: 2715OMIM code: 257970

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Hunter-Jurenka-Thompson syndrome
Zespół Huntera, Jurenka i Thompson
ORC syndrome
Oculorenocerebellar syndrome
ORPHA code
2715
OMIM code
257970
ICD10 code
Q04.8
ICD11 code
-

No additional description.

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