NFIA, nuclear factor I A, 4774

N. diseases: 95; N. variants: 29
Disease: CHROMOSOME 1p32-p31 DELETION SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151036
Disease: CHROMOSOME 1p32-p31 DELETION SYNDROME
CHROMOSOME 1p32-p31 DELETION SYNDROME 		0.010 GeneticVariation disease BEFREE Fetuses with chromosome 1p32-p31 deletion syndrome and haploinsufficiency of the NFIA gene may present ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction in the third trimester. 22030051 2011