Additional Disease Briefs

blepharophimosis – intellectual disability syndrome, MKB type

Also known as: BMRS, MKB type, BMRS, Maat-Kievit-Brunner type, OHDOX, Ohdo syndrome, X-linked, Ohdo syndrome, X-linked, X-linked recessive, X-linked Ohdo syndrome, blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type, blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type

blepharophimosis – intellectual disability syndrome, Ohdo type

Also known as: BMRS, Ohdo type, Ohdo blepharophimosis syndrome, Ohdo syndrome, Ohdo-Madokoro-Sonoda syndrome, blepharophimosis syndrome, Ohdo type, intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth, mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

blepharophimosis – intellectual disability syndrome, SBBYS type

Also known as: Ohdo syndrome, SBBYS variant, SBBYSS, SBBYSS syndrome, Say-Barber-Biesecker-Young-Simpson syndrome, Young-Simpson syndrome, blepharophimosis - intellectual disability syndrome, SBBYS type, hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome

blepharophimosis – intellectual disability syndrome, Verloes type

Also known as: BMRS type V, BMRS, Verloes type, blepharophimosis with facial and genital anomalies and intellectual disability, blepharophimosis with facial and genital anomalies and mental retardation, blepharophimosis-intellectual disability syndrome type V, blepharophimosis-intellectual disability syndrome, Verloes type, blepharophimosis-mental retardation syndrome, Verloes type

blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome

blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome

blepharophimosis-ptosis-epicanthus inversus syndrome plus

Also known as: 3q23 microdeletion syndrome, BPES plus

blepharophimosis-ptosis-epicanthus inversus syndrome type 1

Also known as: BPES type 1, blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure

blepharophimosis-ptosis-epicanthus inversus syndrome type 2

Also known as: BPES type 2, blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure

blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

Also known as: Frydman Cohen Karmon syndrome, Frydman-Cohen-Karmon syndrome, blepharophimosis - ptosis - esotropia - syndactyly - short stature, blepharophimosis with ptosis, syndactyly, and short stature