Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 GeneticVariation disease BEFREE The proband had microduplication in the chromosomal region containing NSD1, which resulted in a Sotos syndrome reversed phenotype, and this duplication was associated with microcephaly, short stature, and developmental delay. 28128410 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 Biomarker disease BEFREE Our case provides evidence that the gene dosage effect of the NSD1 gene causes a reversed phenotype of microcephaly and short stature. 16770806 2006
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 Biomarker disease HPO