IGF2, insulin like growth factor 2, 3481

N. diseases: 604; N. variants: 19
Disease: Clinodactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		0.010 GeneticVariation disease BEFREE Silver-Russell syndrome (SRS) describes a uniform malformation syndrome characterized by intrauterine and postnatal growth restriction and morphological abnormalities including a small triangular face, relative macrocephaly, asymmetry of the head and limbs, and clinodactyly V. In >38% of SRS cases a hypomethylation of the H19/IGF2 DMR in 11p15 can be detected. 19632365 2010