Disease: Pena-Shokeir syndrome type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.010 Biomarker disease BEFREE We describe a newborn female with arthrogryposis multiplex due to fetal akinesia secondary to CDG-DPAGT1. 26033833 2015