CBFB, core-binding factor subunit beta, 865

N. diseases: 76; N. variants: 4
Disease: Cleft palate, isolated ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.300 Biomarker disease CTD_human Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome. 17022082 2006