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Joubert syndrome with oculorenal defect
A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.
ORPHA:2318Classification level: Disorder
- Arima syndrome
- Cerebellooculorenal syndrome
- Dekaban-Arima syndrome
- JS type B
- Joubert syndrome with Senior-Loken syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q04.3
- OMIM: 243910 608091 610188 612285 614424 614465 614844
- UMLS: C1855675
- MeSH: -
- GARD: 9455
- MedDRA: -
Prevalence is unknown.
Patients present retinal involvement (manifesting with either Leber congenital amaurosis (LCA, see this term), or progressive retinal dystrophy) and nephronophthisis (NPH, usually juvenile). Retinal involvement is present at birth (LCA) or may manifest later in life. Juvenile NPH usually becomes clinically symptomatic towards the late first decade or the early second decade of life.
About 50% of patients carry mutations in the CEP290 gene (12q21.33), transmitted in an autosomal recessive manner.
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