ZNF148, zinc finger protein 148, 7707

N. diseases: 81; N. variants: 2
Disease: underdevelopment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020636
Disease: underdevelopment
underdevelopment 		0.010 Biomarker disease BEFREE The newly described ZNF148-associated syndrome is characterized by underdevelopment of the corpus callosum, mild to moderate developmental delay and ID, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations. 27964749 2016