SATB2, SATB homeobox 2, 23314

N. diseases: 233; N. variants: 38
Disease: Craniofacial Abnormalities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.330 Biomarker group BEFREE SATB2-associated syndrome (SAS) is a recently identified disorder characterized by neurodevelopmental deficits and craniofacial anomalies. 31392730 2019
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.330 Biomarker group BEFREE SATB2-associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. 29436146 2018
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.330 Biomarker group BEFREE The SATB2-associated syndrome is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities, behavioral problems, dysmorphic features, and palatal and dental abnormalities. 27774744 2017
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.330 Biomarker group CTD_human Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. 16960803 2006