List of Genetic Tests Available Initial B

Health Conditions

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

List adopted from Genetics Home Reference: A Guide to Understanding genetic Conditions

• B variant GM2 gangliosidosis, see Tay-Sachs 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 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
• 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 benign chronic pemphigus
• 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
• 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 familial idiopathic basal ganglia calcification
• bimanual synergia, see congenital mirror movement disorder
• bimanual synkinesis, see congenital mirror movement disorder
• BIOT, see biotinidase 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
• BKT, see beta-ketothiolase deficiency
• Blackfan Diamond anemia, see Diamond-Blackfan anemia
• Blackfan-Diamond disease, see Diamond-Blackfan anemia
• Blackfan-Diamond syndrome, see Diamond-Blackfan anemia
• 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
• 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
• 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
• 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
• 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