Blepharophimosis, ptosis, and epicanthus inversus syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Blepharophimosis syndrome type 1 C2931135 FOXL2 Causal Pathogenic evidence from ClinVar 16219626, 20429427, 21889601 ClinVar
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) C0220663 FOXL2 Causal Pathogenic evidence from ClinVar 11175783, 11468277, 12400065, 12529855, 12630957, 12938087, 15257268, 16454982, 17089161, 18372316, 18484667, 18642388, 19429596 ClinVar
Blepharophimosis, Ptosis, and Epicanthus Inversus Type II C3714208 FOXL2 Causal Pathogenic evidence from ClinVar - ClinVar
Blepharophimosis-ptosis-epicanthus inversus syndrome plus 572333 FOXL2 Causal Pathogenic evidence from ClinVar - ClinVar
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 572354 FOXL2 Causal Pathogenic evidence from ClinVar - ClinVar
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 572361 FOXL2 Causal Pathogenic evidence from ClinVar - ClinVar
Bpes, Type I, Autosomal Recessive C1970106 FOXL2 Causal Pathogenic evidence from ClinVar 16283882 ClinVar