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Genetics →
Genetic Conditions: B
URL of this page: https://medlineplus.gov/genetics/condition-b/

Genetic Conditions: B

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

Other genetic conditions A-Z
  • 0-9
  • A
  • B
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  • D
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  • 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 Progressive myoclonic epilepsy type 1
  • Baltic myoclonus, see Progressive myoclonic epilepsy type 1
  • Baltic myoclonus epilepsy, see Progressive myoclonic epilepsy type 1
  • 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
  • BFNE, see Benign familial neonatal seizures
  • BFNS, see Benign familial neonatal seizures
  • BGS, see Baller-Gerold syndrome
  • BH4 deficiency, see Tetrahydrobiopterin deficiency
  • BHD, see Birt-Hogg-Dubé 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
  • 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
  • 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 Bohring-Opitz syndrome
  • BOS, see Buschke-Ollendorff syndrome
  • BOS, see Branchiootorenal/branchiootic 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
  • Brock's disease, see Familial hypertrophic cardiomyopathy
  • Brody disease, see Brody myopathy
  • Brody myopathy
  • Bronze diabetes, see Hereditary hemochromatosis
  • Bronzed cirrhosis, see Hereditary hemochromatosis
  • Brooke-Fordyce trichoepitheliomas, see Multiple familial trichoepithelioma
  • Brown-Vialetto-Van Laere syndrome, see Riboflavin transporter deficiency neuronopathy
  • BRRS, see Bannayan-Riley-Ruvalcaba 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 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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