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Joubert syndrome with oculorenal defect

rare

Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.

Identifiers
MONDO:0009480 OMIM:243910Orphanet:2318
Part of
Joubert syndrome and related disordersCentral nervous system malformationDisorder of visual systemSyndromic disease
Also known as
Arima syndrome · cerebello-oculo-renal syndrome · Cerebellooculorenal syndrome · cerebro-oculo-hepato-renal syndrome · chorioretinal coloboma with cerebellar vermis aplasia

Subtypes

All diseases Rare only
Disease Subtypes
Joubert syndrome 14
Joubert syndrome 16
Joubert syndrome 2
Joubert syndrome 5
Joubert syndrome 9

Rare disease

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