Blepharophimosis, intellectual disability syndrome

Blepharophimosis, intellectual disability syndrome (disorder)

active

Code	`788584007`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20200131

Parents (5)

93040009Congenital blepharophimosis disorder
398206004Congenital deformity of face disorder
430960001Deformity of eyelid disorder
1362108000Genetic intellectual disability disorder
65094009Multiple malformation syndrome with facial defects as major feature disorder

Children (4)

778009001Blepharophimosis, intellectual disability syndrome, Verloes type disorder
412787009Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth disorder
699297004Ohdo syndrome, Maat-Kievit-Brunner type disorder
699298009Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant disorder