" /> Curry-jones syndrome - CISMeF





Preferred Label : Curry-jones syndrome;

Symbol : CRJS;

CISMeF acronym : CRJS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development;

Inheritance : Somatic mosaicism;

Molecular basis : Caused by somatic mosaic mutation in the smoothened, frizzled class receptor gene (SMOH, 601500.0001);

Neoplasia : Desmoplastic medulloblastoma of cerebellum (rare);

Prefixed ID : #601707;

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01/05/2025


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