SOX5, SRY-box transcription factor 5, 6660

N. diseases: 150; N. variants: 37
Disease: Developmental and speech delay due to SOX5 deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4749915
Disease: Developmental and speech delay due to SOX5 deficiency
Developmental and speech delay due to SOX5 deficiency 		0.300 GermlineCausalMutation disease ORPHANET Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. 22290657 2012