Disease: Blepharophimosis ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.010 GeneticVariation disease BEFREE From a clinical standpoint, a differential diagnosis of patients with blepharophimosis should include ADNP mutations in addition to blepharophimosis ptosis epicanthus inversus syndrome, especially when intellectual disability is present. 28407407 2017