SMC3, structural maintenance of chromosomes 3, 9126

N. diseases: 193; N. variants: 21
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease BEFREE When compared with typical CdLS, many SMC3-associated phenotypes are also characterized by postnatal microcephaly but with a less distinctive craniofacial appearance, a milder prenatal growth retardation that worsens in childhood, few congenital heart defects, and an absence of limb deficiencies. 25655089 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO