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

B-cell immunodeficiency, distal limb anomalies, and urogenital malformations

Rare Disease

MONDO:0012243

Also Known As

B-cell immunodeficiency, distal limb anomalies, and urogenital malformationsB-cell immunodeficiency-limb anomaly-urogenital malformation syndromeBILU syndromeHoffman syndrome

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Associated Genes

TOP2B ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:609296 ↗

Orphanet

Orphanet:567502 ↗

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