" /> Arima syndrome - CISMeF





Preferred Label : Arima syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Dekaban-arima syndrome; Joubert syndrome with bilateral chorioretinal coloboma; Cerebrooculohepatorenal syndrome; Coloboma, chorioretinal, with cerebellar vermis aplasia;

Description : Arima syndrome is an autosomal recessive disorder characterized by agenesis of the cerebellar vermis, ocular abnormalities, cystic kidney disease, and, in some cases, liver disease. It shares phenotypic features with Joubert syndrome (see 213300), COACH syndrome (216360), and familial juvenile nephronophthisis (see 256100).;

Inheritance : Autosomal recessive;

Prefixed ID : %243910;

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28/07/2025


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