" /> Diamond-blackfan anemia 6 - CISMeF





Preferred Label : Diamond-blackfan anemia 6;

Symbol : DBA6;

CISMeF acronym : DBA6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aase-smith syndrome II;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in ribosomal protein L5 (RPL5, 603634.0001);

Laboratory abnormalities : Iron overload (in some patients); Elevated erythrocyte adenosine deaminase (eADA);

Prefixed ID : #612561;

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01/05/2025


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