Additional Disease Briefs
bleeding disorder, platelet-type, 24
Also known as: BDPLT24, Glanzmann Thrombasthenia-Like With Macrothrombocytopenia 2, bleeding disorder, platelet-type, 24, bleeding disorder, platelet-type, 24, autosomal dominant
blepharocheilodontic syndrome
Also known as: BCD syndrome, BCDS, BCDS1, Elsching syndrome, Elschnig syndrome, blepharo-cheilo-dontic syndrome, blepharo-cheilo-odontic syndrome, blepharocheilodontic syndrome, blepharocheilodontic syndrome 1, clefting, ectropion, and conical teeth, clefting-ectropion-conical teeth syndrome, ectropion inferior cleft lip and or palate, ectropion inferior-cleft lip and or palate syndrome, ectropion inferior-cleft lip and/or palate syndrome, ectropion, inferior, with cleft lip and/or palate, lagophthalmia with bilateral cleft lip and palate, lagophthalmia-cleft lip and palate syndrome
blepharocheilodontic syndrome 1
Also known as: BCD syndrome, BCDS1, CDH1 blepharo-cheilo-odontic syndrome, Lagophthalmia with bilateral cleft 51P and palate, blepharo-cheilo-odontic syndrome caused by mutation in CDH1, blepharocheilodontic syndrome, blepharocheilodontic syndrome 1, clefting, ectropion, and conical teeth, ectropion, Inferior, with cleft 51P and/Or palate, elschnig syndrome
blepharocheilodontic syndrome 2
Also known as: BCDS2, BLEPHAROCHEILODONTIC syndrome 2, CTNND1 blepharo-cheilo-odontic syndrome, blepharo-cheilo-odontic syndrome caused by mutation in CTNND1
blepharonasofacial malformation syndrome
blepharophimosis – intellectual disability syndrome
Also known as: BMRS, SBBYS syndrome, Say Barber Biesecker Young-Simpson syndrome, Young Simpson syndrome, blepharophimosis intellectual disability syndromes, blepharophimosis mental retardation syndromes, blepharophimosis syndrome Ohdo typeBMRS, SBBYS syndrome, Say Barber Biesecker Young-Simpson syndrome, Young Simpson syndrome, blepharophimosis intellectual disability syndromes, blepharophimosis mental retardation syndromes, blepharophimosis syndrome Ohdo type
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 typeBMRS, 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 teethBMRS, 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 syndromeOhdo 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