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Bone Dysplasia
Bonneau-Beaumont Syndrome (Cataract-Hyperferritinemia Syndrome; Hyperferritinemia, Hereditary, with Congenital Cataracts)
Bonneman Meinecke Reich Syndrome (Encephalopathy with Intracerebral Calcification and Retinal Degeneration)
Bonnemann Meinecke Syndrome (Porencephaly Cerebellar Hypoplasia Malformations)
Bonnevie Ulrich Syndrome
Bonnet-Dechaume-Blanc Syndrome
Book Syndrome
Boomerang Dysplasia
Booth Haworth Dilling Syndrome (Mitochondrial Encephalomyopathy Aminoacidopathy)
Borjeson Forssman Lehmann Syndrome (Mental Deficiency-Epilepsy-Endocrine Disorders)
Bork Stender Schmidt Syndrome (Tricho Retino Dento Digital Syndrome)
Borrone Di Rocco Crovato Syndrome (Dermatocardioskeletal Syndrome, Boronne Type)
Boscherini Galasso Manca Bitti Syndrome (Pericardium Absent Mental Retardation Short Stature)
Bosma Henkin Christiansen Syndrome (Hyposmia Nasal Hypoplasia Hypogonadism)
Boucher Neuhauser Syndrome (Ataxia Hypogonadism Choroidal Dystrophy)
Boudhina Yedes Khiari Syndrome (Short Stature Microcephaly Seizures Deafness)
Bourneville Syndrome
Bouwes Bavinck Weaver Ellis Syndrome (Mental Retardation Short Stature Microcephaly Eye)
Bowen Syndrome (of Multple Malformations)
Bowen Conradi (Hutterite) Syndrome
Bowing of Long Bones, Congenital
Boylan Dew Greco Syndrome (Hypomyelination Neuropathy)
Brachioskeletogenital (BSG) Syndrome
Brachman de Lange Syndrome
Brachycephalofrontonasal Dysplasia
Brachycephaly
Brachydactylous Dwarfism
Brachydactyly
Brachymesomelia Renal Syndrome
Brachymetapody
- with Anodontia, Hypotrichosis and Albinoidism (Oculoosteocutaneous Syndrome)
Brachymorphism Onychodysplasia Dysphalangism (BOD) Syndrome (Senior Syndrome)
Brachyolmia
Brachysyndactyly
Brachytelephalangy Characteristic Facies Kallmann Syndrome
Braddock Carey Syndrome (Thrombocytopenia Robin Sequence)
Braddock Jones Superneau Syndrome (Craniosynostosis Dandy Walker Hydrocephalus)
Brancher Deficiency
Branchial Arch Syndrome
Branchiooculofacial Syndrome (Lee Root Fenske Syndrome, Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome)
Branchiootorenal (BOR) Syndrome (Branchiootorenal Syndrome)
Braun Bayer Syndrome (Nephrosis Deafness Urinary Tract Digital Malformations)
Brittle Bone Disease
Brittle Bone Syndrome
- Lethal Type (Maroteaux Cohen Solal Bonaventure Syndrome)
Brittle Cornea Syndrome
Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature (BIDS) Syndrome (Amish Brittle Hair Syndrome, Hair-Brain Syndrome, Trichothiodystrophy, TTD)
Broad Beta Disease
Broad-Betalipoproteinemia (Broad Beta Disease; Dysbetalipoproteinemia, Familial; Floating Beta Disease; Hyperlipoproteinemia, Type III; Xanthoma Tuberosum)
Brocq’s Lupoid Sycosis
Brodie Chole Griffin Syndrome (Macrothrombocytopenia Progressive Deafness)
Bronchiectasis Oligospermia ([Barry Perkins] Young Syndrome, Sinusitis-Infertility Syndome)
Bronspiegel Zelnick Syndrome (Aplasia Cutis Autosomal Recessive, Aplasia Cutis Congenita Intestinal Lymphangiectasia)
bronze Schilder disease
Bruce Winship Syndrome (Radial Defect Robin Sequence)
Bruck Syndrome (Osteogenesis Imperfecta Congenital Joint Contractures)
Brugada Syndrome (Ventricular Fibrillation, Idiopathic)
Brunner Winter Syndrome (Oesophageal Duodenal Atresia Abnormalities of Hands and Feet)
Brunoni Syndrome (Mesomelia Radial Hypoplasia Bifid Thumb Unusual Facies)
Brunzell Syndrome (Systemic Cystic Angiomatosis and Seip Syndrome)
Brusa Toricelli Syndrome
Bruton Disease/Agammaglobulinemia (X-Linked Agammagloulinemia, XLA)
Bruyn Scheltens Syndrome (Paraparesis Amyotrophy of Hands and Feet)
Budd-Chiari Syndrome (Hepatic Veno-Occlusive Disease, Rokitansky's Disease)
Bull Nixon Syndrome (Basilar Impression Primary)
Bulldog Syndrome
Bullous Dystrophy
Bundle Branch Block
Buntinx Lormans Martin Syndrome (Radioulnar Synostosis Retinal Pigment Abnormalities)
Burn Goodship Syndrome (Choanal Atresia Deafness Cardiac Defects Dysmorphism)
Burnett Schwartz Berberian Syndrome (Multiple Congenital Anomalies Ulerythema Ophryogenesis)
Burton Syndrome (Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis)
Buschke Fischer Brauer Syndrome (Keratosis Palmoplantaris Papulosa)
Buschke Ollendorff Syndrome (Osteopathia Condensans Disseminata with Osteopoikilosis, Osteopoikilosis)
Bustos Simosa Pinto Cisternas Syndrome (Ectodermal Dysplasia, Margarita Type)
Buttiens Fryns Syndrome (Limb Deficiencies Distal Micrognathia)
Byler Disease (Cholestasis, Progressive Familial Intrahepatic)
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