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

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 typeBMRS 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