SPRY2, sprouty RTK signaling antagonist 2, 10253

N. diseases: 111; N. variants: 3
Disease: Congenital macroglossia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009677
Disease: Congenital macroglossia
Congenital macroglossia 		0.010 GeneticVariation disease BEFREE We report on a female fetus with macrocephaly and macroglossia harbouring 13q31.1 microdeletion encompassing three genes: SPRY2, NDFIP2 and RBM26. 26365529 2015