FOXC2, forkhead box C2, 2303

N. diseases: 168; N. variants: 18
Disease: Ptosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033377
Disease: Ptosis
Ptosis 		0.110 GeneticVariation disease BEFREE Here we describe a case of LD carrying a de novo frameshift mutation of FOXC2 who presented a prepubertal onset of lower limbs lymphedema and mild distichiasis associated with other anomalies such as webbing neck and ptosis. 20450314 2010
CUI: C0033377
Disease: Ptosis
Ptosis 		0.110 Biomarker disease HPO