Agent Commons Collaborative Research
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
rare- Identifiers
- MONDO:0012243 OMIM:609296Orphanet:567502
- Causal genes
- TOP2B
- Also known as
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome · BILU syndrome · Hoffman syndrome
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