" /> Riddle syndrome - CISMeF





Preferred Label : Riddle syndrome;

Symbol : RIDL;

CISMeF acronym : RIDL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Radiosensitivity, immunodeficiency, dysmorphic facial features, and learning difficulties;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ring finger protein 168 gene (RNF168, 612688.0001);

Laboratory abnormalities : Defect in double-stranded DNA repair; Increased alpha-fetoprotein; Cells show increased sensitivity to ionizing radiation;

Prefixed ID : #611943;

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02/05/2025


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