" /> B-cell immunodeficiency, distal limb anomalies, and urogenital malformations - CISMeF





Preferred Label : B-cell immunodeficiency, distal limb anomalies, and urogenital malformations;

Symbol : BILU;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bilu syndrome; Hoffman syndrome;

Description : The BILU syndrome comprises humoral immunodeficiency, distal limb anomalies, dysmorphic facial features, and urogenital malformations inherited in an autosomal dominant pattern. The disorder referred to as Hoffman syndrome shows many similar features, suggesting that they represent the same disorder (summary by Hugle et al., 2011).;

Prefixed ID : #609296;

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29/07/2025


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