Genetic Conditions: B

Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.

• B variant GM2 gangliosidosis, see Tay-Sachs disease
• B. burgdorferi infection, see Lyme disease
• Baller-Gerold syndrome
• Ballinger-Wallace syndrome, see Maternally inherited diabetes and deafness
• Baltic myoclonic epilepsy, see Unverricht-Lundborg disease
• Baltic myoclonus, see Unverricht-Lundborg disease
• Baltic myoclonus epilepsy, see Unverricht-Lundborg disease
• BAM syndrome, see Bosma arhinia microphthalmia syndrome
• bamboo hair syndrome, see Netherton syndrome
• BAMS, see Bosma arhinia microphthalmia syndrome
• BANF, see Neurofibromatosis type 2
• bangungut, see Brugada syndrome
• Bannayan-Riley-Ruvalcaba syndrome
• Bannayan-Ruvalcaba-Riley syndrome, see Bannayan-Riley-Ruvalcaba syndrome
• Bannayan-Zonana syndrome, see Bannayan-Riley-Ruvalcaba syndrome
• BAP1 tumor predisposition syndrome
• BAP1-related tumor predisposition syndrome, see BAP1 tumor predisposition syndrome
• BAP1-TPDS, see BAP1 tumor predisposition syndrome
• Baraitser-Winter syndrome
• Bardet-Biedl syndrome
• bare lymphocyte syndrome type 2, see Bare lymphocyte syndrome type II
• Bare lymphocyte syndrome type I
• Bare lymphocyte syndrome type II
• Bart-Pumphrey syndrome
• Barth syndrome
• Bartholin-Patau syndrome, see Trisomy 13
• Bartter disease, see Bartter syndrome
• Bartter syndrome
• Bartter's syndrome, see Bartter syndrome
• basal cell nevus syndrome, see Gorlin syndrome
• basal ganglia disease, adult-onset, see Neuroferritinopathy
• Basedow disease, see Graves disease
• Basedow's disease, see Graves disease
• Bassen-Kornzweig disease, see Abetalipoproteinemia
• Bassen-Kornzweig syndrome, see Abetalipoproteinemia
• Batten-Mayou disease, see CLN3 disease
• Batten-Spielmeyer-Vogt disease, see CLN3 disease
• BBGD, see Biotin-thiamine-responsive basal ganglia disease
• BBS, see Bardet-Biedl syndrome
• BCD, see Bietti crystalline dystrophy
• BCD syndrome, see Blepharocheilodontic syndrome
• BCDS, see Blepharocheilodontic syndrome
• BCIE, see Epidermolytic hyperkeratosis
• BCKD deficiency, see Maple syrup urine disease
• BCNS, see Gorlin syndrome
• BDA, see Diamond-Blackfan anemia
• BDLS, see Cornelia de Lange syndrome
• BDPLT1, see Bernard-Soulier syndrome
• BDPLT11, see Glycoprotein VI deficiency
• BDPLT4, see Gray platelet syndrome
• BDS, see Diamond-Blackfan anemia
• beaded hair, see Monilethrix
• Beals syndrome, see Congenital contractural arachnodactyly
• Beals-Hecht syndrome, see Congenital contractural arachnodactyly
• Beare-Stevenson cutis gyrata syndrome
• Bechterew disease, see Ankylosing spondylitis
• Beckwith-Wiedemann syndrome
• Behcet disease, see Behçet disease
• Behcet syndrome, see Behçet disease
• Behcet triple symptom complex, see Behçet disease
• Behcet's syndrome, see Behçet disease
• Behçet disease
• benign chronic pemphigus, see Hailey-Hailey disease
• Benign essential blepharospasm
• benign essential tremor, see Essential tremor
• benign familial neonatal convulsions, see Benign familial neonatal seizures
• benign familial neonatal epilepsy, see Benign familial neonatal seizures
• Benign familial neonatal seizures
• benign familial pemphigus, see Hailey-Hailey disease
• benign familial polycythemia, see Familial erythrocytosis
• benign neonatal convulsions, see Benign familial neonatal seizures
• benign neonatal epilepsy, see Benign familial neonatal seizures
• benign paroxysmal peritonitis, see Familial Mediterranean fever
• benign pilomatricoma, see Pilomatricoma
• benign pilomatrixoma, see Pilomatricoma
• Benign recurrent intrahepatic cholestasis
• benign scapuloperoneal muscular dystrophy with early contractures, see Emery-Dreifuss muscular dystrophy
• Berardinelli-Seip congenital lipodystrophy, see Congenital generalized lipodystrophy
• Berardinelli-Seip syndrome, see Congenital generalized lipodystrophy
• Berdon syndrome, see Megacystis-microcolon-intestinal hypoperistalsis syndrome
• Berlin breakage syndrome, see Nijmegen breakage syndrome
• Bernard-Horner syndrome, see Horner syndrome
• Bernard-Soulier syndrome
• Bessel-Hagen disease, see Hereditary multiple osteochondromas
• Beta thalassemia
• beta-alanine synthase deficiency, see Beta-ureidopropionase deficiency
• beta-D-mannosidosis, see Beta-mannosidosis
• beta-galactosidase-1 (GLB1) deficiency, see GM1 gangliosidosis
• beta-glucuronidase deficiency, see Mucopolysaccharidosis type VII
• Beta-hexosaminidase-beta-subunit deficiency, see Sandhoff disease
• Beta-ketothiolase deficiency
• beta-mannosidase deficiency, see Beta-mannosidosis
• Beta-mannosidosis
• Beta-propeller protein-associated neurodegeneration
• beta-sitosterolemia, see Sitosterolemia
• Beta-ureidopropionase deficiency
• betalipoprotein deficiency disease, see Abetalipoproteinemia
• Beuren syndrome, see Williams syndrome
• BFNS, see Benign familial neonatal seizures
• BGS, see Baller-Gerold syndrome
• BH4 deficiency, see Tetrahydrobiopterin deficiency
• BHD, see Birt-Hogg-Dubé syndrome
• biallelic mismatch repair deficiency syndrome, see Constitutional mismatch repair deficiency syndrome
• Biason-Lauber syndrome, see Müllerian aplasia and hyperandrogenism
• Biber-Haab-Dimmer dystrophy, see Lattice corneal dystrophy type I
• bidirectional tachycardia induced by catecholamines, see Catecholaminergic polymorphic ventricular tachycardia
• BIDS syndrome, see Trichothiodystrophy
• BIE, see Epidermolytic hyperkeratosis
• Bietti crystalline corneoretinal dystrophy, see Bietti crystalline dystrophy
• Bietti crystalline dystrophy
• Bietti crystalline retinopathy, see Bietti crystalline dystrophy
• Bietti tapetoretinal degeneration with marginal corneal dystrophy, see Bietti crystalline dystrophy
• bifunctional peroxisomal enzyme deficiency, see D-bifunctional protein deficiency
• bilateral acoustic neurofibromatosis, see Neurofibromatosis type 2
• bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance, see Burn-McKeown syndrome
• bilateral striopallidodentate calcinosis, see Primary familial brain calcification
• bimanual synergia, see Congenital mirror movement disorder
• bimanual synkinesis, see Congenital mirror movement disorder
• BIOT, see Biotinidase deficiency
• Biotin-(propionyl-CoA-carboxylase) ligase deficiency, see Holocarboxylase synthetase deficiency
• Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency, see Holocarboxylase synthetase deficiency
• biotin-responsive basal ganglia disease, see Biotin-thiamine-responsive basal ganglia disease
• Biotin-thiamine-responsive basal ganglia disease
• Biotinidase deficiency
• bipolar affective disorder, see Bipolar disorder
• bipolar affective psychosis, see Bipolar disorder
• Bipolar disorder
• bipolar spectrum disorder, see Bipolar disorder
• Birk-Barel mental retardation dysmorphism syndrome, see KCNK9 imprinting syndrome
• Birk-Barel syndrome, see KCNK9 imprinting syndrome
• Birt-Hogg-Dubé syndrome
• Bjornstad syndrome, see Björnstad syndrome
• BJS, see Björnstad syndrome
• Björnstad syndrome
• black liver-jaundice syndrome, see Dubin-Johnson syndrome
• Blackfan Diamond anemia, see Diamond-Blackfan anemia
• Blackfan-Diamond disease, see Diamond-Blackfan anemia
• Blackfan-Diamond syndrome, see Diamond-Blackfan anemia
• Bladder cancer
• bladder carcinoma urinary, see Bladder cancer
• bladder tumor, see Bladder cancer
• Blau syndrome
• bleeding diathesis due to a collagen receptor defect, see Glycoprotein VI deficiency
• bleeding disorder, platelet-type, 1, see Bernard-Soulier syndrome
• bleeding disorder, platelet-type, 11, see Glycoprotein VI deficiency
• bleeding disorder, platelet-type, 4, see Gray platelet syndrome
• blepharo-cheilo-dontic syndrome, see Blepharocheilodontic syndrome
• blepharo-cheilo-odontic syndrome, see Blepharocheilodontic syndrome
• Blepharocheilodontic syndrome
• blepharophimosis and mental retardation syndrome, Say-Barber/Biesecker/Young-Simpson type, see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• blepharophimosis syndrome, see Blepharophimosis, ptosis, and epicanthus inversus syndrome
• blepharophimosis, ptosis, and epicanthus inversus, see Blepharophimosis, ptosis, and epicanthus inversus syndrome
• Blepharophimosis, ptosis, and epicanthus inversus syndrome
• blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type, see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type, see Ohdo syndrome, Maat-Kievit-Brunner type
• blepharophimosis-ptosis-intellectual disability syndrome, see Kaufman oculocerebrofacial syndrome
• Bloch-Siemens syndrome, see Incontinentia pigmenti
• Bloch-Siemens-Sulzberger Syndrome, see Incontinentia pigmenti
• Bloch-Sulzberger Syndrome, see Incontinentia pigmenti
• Bloom syndrome
• Bloom's syndrome, see Bloom syndrome
• Bloom-Torre-Machacek syndrome, see Bloom syndrome
• BLS type II, see Bare lymphocyte syndrome type II
• BLT syndrome, see Brain-lung-thyroid syndrome
• blue baby syndrome, see Methemoglobinemia, beta-globin type
• BMCC deficiency, see 3-methylcrotonyl-CoA carboxylase deficiency
• BMKS, see Burn-McKeown syndrome
• BMMRD, see Constitutional mismatch repair deficiency syndrome
• BMRS SBBYS, see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• BMRS, MKB type, see Ohdo syndrome, Maat-Kievit-Brunner type
• BNHS, see Boucher-Neuhäuser syndrome
• BNS, see Boucher-Neuhäuser syndrome
• BO syndrome, see Branchiootorenal/branchiootic syndrome
• BOFS, see Branchio-oculo-facial syndrome
• Bohring syndrome, see Bohring-Opitz syndrome
• Bohring-Opitz syndrome
• Bonneau-Beaumont syndrome, see Hyperferritinemia-cataract syndrome
• Boomerang dysplasia
• BOPS, see Bohring-Opitz syndrome
• BOR, see Branchiootorenal/branchiootic syndrome
• BOR syndrome, see Branchiootorenal/branchiootic syndrome
• Borrelia burgdorferi infection, see Lyme disease
• borreliosis, Lyme, see Lyme disease
• BOS, see Branchiootorenal/branchiootic syndrome
• BOS, see Bohring-Opitz syndrome
• BOS, see Buschke-Ollendorff syndrome
• Bosma arhinia microphthalmia syndrome
• Bosma syndrome, see Bosma arhinia microphthalmia syndrome
• Boucher-Neuhäuser syndrome
• Bourneville disease, see Tuberous sclerosis complex
• Bourneville phakomatosis, see Tuberous sclerosis complex
• Bowen Hutterite syndrome, see Bowen-Conradi syndrome
• Bowen syndrome, Hutterite type, see Bowen-Conradi syndrome
• Bowen-Conradi Hutterite syndrome, see Bowen-Conradi syndrome
• Bowen-Conradi syndrome
• BPAN, see Beta-propeller protein-associated neurodegeneration
• BPES, see Blepharophimosis, ptosis, and epicanthus inversus syndrome
• BPIDS, see Kaufman oculocerebrofacial syndrome
• Brachial Neuralgia, see Hereditary neuralgic amyotrophy
• Brachial Neuritis, see Hereditary neuralgic amyotrophy
• Brachial Plexus Neuritis, see Hereditary neuralgic amyotrophy
• Brachmann-de Lange syndrome, see Cornelia de Lange syndrome
• brachydactyly with joint dysplasia, see Liebenberg syndrome
• brachydactyly-elbow wrist dysplasia syndrome, see Liebenberg syndrome
• brachydactyly-mental retardation syndrome, see 2q37 deletion syndrome
• brachydactyly-spherophakia syndrome, see Weill-Marchesani syndrome
• brachymorphy with spherophakia syndrome, see Weill-Marchesani syndrome
• Bradyopsia
• brain small-vessel disease with hemorrhage, see COL4A1-related brain small-vessel disease
• Brain-lung-thyroid syndrome
• brain-thyroid-lung syndrome, see Brain-lung-thyroid syndrome
• branched-chain alpha-keto acid dehydrogenase deficiency, see Maple syrup urine disease
• branched-chain ketoaciduria, see Maple syrup urine disease
• brancher deficiency, see Glycogen storage disease type IV
• branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging, see Branchio-oculo-facial syndrome
• branching enzyme deficiency, see Glycogen storage disease type IV
• Branchio-oculo-facial syndrome
• branchio-oto-renal syndrome, see Branchiootorenal/branchiootic syndrome
• branchio-otorenal dysplasia, see Branchiootorenal/branchiootic syndrome
• branchio-otorenal syndrome, see Branchiootorenal/branchiootic syndrome
• branchiootic syndrome, see Branchiootorenal/branchiootic syndrome
• branchiootorenal dysplasia, see Branchiootorenal/branchiootic syndrome
• branchiootorenal spectrum disorders, see Branchiootorenal/branchiootic syndrome
• branchiootorenal syndrome, see Branchiootorenal/branchiootic syndrome
• Branchiootorenal/branchiootic syndrome
• Breast cancer
• breast cancer, familial, see Breast cancer
• breast carcinoma, see Breast cancer
• BRIC, see Benign recurrent intrahepatic cholestasis
• brittle bone disease, see Osteogenesis imperfecta
• brittle hair-intellectual impairment-decreased fertility-short stature syndrome, see Trichothiodystrophy
• broad thumb-hallux syndrome, see Rubinstein-Taybi syndrome
• Brody disease, see Brody myopathy
• Brody myopathy
• bronze diabetes, see Hereditary hemochromatosis
• bronzed cirrhosis, see Hereditary hemochromatosis
• Brooke-Fordyce trichoepitheliomas, see Multiple familial trichoepithelioma
• Brooke-Spiegler syndrome
• Brown-Vialetto-Van Laere syndrome, see Riboflavin transporter deficiency neuronopathy
• BRRS, see Bannayan-Riley-Ruvalcaba syndrome
• BRSS, see Brooke-Spiegler syndrome
• Bruck syndrome 1, see Kuskokwim syndrome
• Brugada syndrome
• Brunner syndrome, see Monoamine oxidase A deficiency
• Brunner-Winter syndrome, see Feingold syndrome
• Brunzell syndrome (with bone cysts), see Congenital generalized lipodystrophy
• Bruton's agammaglobulinemia, see X-linked agammaglobulinemia
• BRWS, see Baraitser-Winter syndrome
• BSCL, see Congenital generalized lipodystrophy
• BSEP deficiency, see Progressive familial intrahepatic cholestasis
• BSS, see Brooke-Spiegler syndrome
• BSS, see Bernard-Soulier syndrome
• BTBGD, see Biotin-thiamine-responsive basal ganglia disease
• BTD deficiency, see Biotinidase deficiency
• BTHS, see Barth syndrome
• Buckley syndrome, see Autosomal dominant hyper-IgE syndrome
• bulbospinal muscular atrophy, X-linked, see Spinal and bulbar muscular atrophy
• bulging cornea, see Keratoconus
• bullous congenital ichthyosiform erythroderma, see Epidermolytic hyperkeratosis
• bullous erythroderma ichthyosiforme, see Epidermolytic hyperkeratosis
• bullous erythroderma ichthyosiformis congenita of Brocq, see Epidermolytic hyperkeratosis
• bullous ichthyosiform erythroderma, see Epidermolytic hyperkeratosis
• bundle branch block, see Progressive familial heart block
• Bunion
• bunion of great toe, see Bunion
• Burger-Grutz syndrome, see Familial lipoprotein lipase deficiency
• Burn-McKeown syndrome
• Buschke-Ollendorff syndrome
• butyrylcholinesterase deficiency, see Pseudocholinesterase deficiency
• BVVLS, see Riboflavin transporter deficiency neuronopathy
• BWCNS, see Bowen-Conradi syndrome
• BWS, see Beckwith-Wiedemann syndrome
• Byler disease, see Progressive familial intrahepatic cholestasis
• Byler syndrome, see Progressive familial intrahepatic cholestasis
• BZS, see Bannayan-Riley-Ruvalcaba syndrome

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