NFIX, nuclear factor I X, 4784

N. diseases: 183; N. variants: 33
Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 Biomarker disease BEFREE NFIX duplications are associated with a phenotype opposite to that of haploinsufficiency, characterized by short stature, small head circumference, and delayed bone age. 31730271 2019