Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND Using trio-based exome sequencing, we here identify de novo SOX4 heterozygous missense variants in four children who share developmental delay, intellectual disability, and mild facial and digital morphological abnormalities. 30661772

2019