Disease: Upward slant of palpebral fissure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.100 CausalMutation phenotype CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017