has material basis in germline mutation in TOP2B syndromic disease hereditary disease B-cell immunodeficiency, distal limb anomalies, and urogenital malformations https://github.com/monarch-initiative/mondo/issues/7847 https://www.malacards.org/card/b_cell_immunodeficiency_distal_limb_anomalies_and_urogenital_malformations Hoffman syndrome BILU syndrome Orphanet:567502 MEDGEN:332208 MESH:C563745 GARD:0027054 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome UMLS:C1836437 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MONDO:0012243 OMIM:609296