Disease - B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
- DefinitionAn autosomal dominant disorder characterized by humoral immunodeficiency with undetectable B cells, distal limb anomalies, dysmorphic facial features, and urogenital malformations.
- AcronymBILU
- Alternative names
- Cross references
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Browse 1 entry- DNA topoisomerase 2-beta · Gene: TOP2B · Homo sapiens (Human) · EC:5.6.2.2 · 1626 amino acids · Evidence at protein level · Annotation score: 5/5