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B variant GM2 gangliosidosis see Tay-Sachs disease
Baller-Gerold syndrome
Baltic myoclonic epilepsy see Unverricht-Lundborg disease
Baltic myoclonus see Unverricht-Lundborg disease
BANF see neurofibromatosis type 2
Bartholin-Patau syndrome see trisomy 13
Basal Cell Nevus Syndrome see Gorlin syndrome
basal ganglia disease, adult-onset see neuroferritinopathy
Bassen-Kornzweig Syndrome see abetalipoproteinemia
Batten disease see juvenile Batten disease
Batten-Mayou disease see juvenile Batten disease
Batten-Spielmeyer-Vogt disease see juvenile Batten disease
BCKD deficiency see maple syrup urine disease
BCNS see Gorlin syndrome
BDA see Diamond-Blackfan anemia
BDLS see Cornelia de Lange syndrome
BDS see Diamond-Blackfan anemia
Beals-Hecht syndrome see congenital contractural arachnodactyly
Beals syndrome see congenital contractural arachnodactyly
Beare-Stevenson cutis gyrata syndrome
Bechterew Disease see ankylosing spondylitis
Beckwith-Wiedemann syndrome
benign essential tremor see essential tremor
Benign paroxysmal peritonitis see familial Mediterranean fever
Benign scapuloperoneal muscular dystrophy with early contractures see Emery-Dreifuss muscular dystrophy
Benign Tumors
Berardinelli-Seip congenital lipodystrophy
Bessel-Hagen disease see hereditary multiple exostoses
17-beta hydroxysteroid dehydrogenase 3 deficiency
17β-hydroxysteroid dehydrogenase type 10 deficiency
Beta-hexosaminidase-beta-subunit deficiency see Sandhoff disease
beta-ketothiolase deficiency
beta-mannosidase deficiency see beta-mannosidosis
beta-mannosidosis
beta thalassemia
Betalipoprotein Deficiency Disease see abetalipoproteinemia
Beuren syndrome see Williams syndrome
BGS see Baller-Gerold syndrome
BH4 Deficiency see tetrahydrobiopterin deficiency
BHD see Birt-Hogg-Dubé syndrome
Biason-Lauber syndrome see WNT4 Müllerian aplasia and ovarian dysfunction
Bilateral Acoustic Neurofibromatosis see neurofibromatosis type 2
Bile Duct Diseases see Alagille syndrome
BIOT see biotinidase deficiency
biotinidase deficiency
Birt-Hogg-Dubé syndrome
Birth Defects see Donnai-Barrow 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
Bleeding Disorders
blepharophimosis, ptosis, and epicanthus inversus syndrome
Bloch-Siemens-Sulzberger Syndrome see incontinentia pigmenti
Bloch-Siemens syndrome see incontinentia pigmenti
Bloch-Sulzberger Syndrome see incontinentia pigmenti
Blood and Blood Disorders
Blood Protein Disorders
Bloom syndrome
blue baby syndrome see methemoglobinemia, beta-globin type
BMCC deficiency see 3-methylcrotonyl-coenzyme A carboxylase deficiency
BMPR1A-related juvenile polyposis see juvenile polyposis syndrome
Bone Cancer see Li-Fraumeni syndrome
Bone Diseases
Bone Marrow Diseases
BOR see branchiootorenal syndrome
Bourneville Disease see tuberous sclerosis complex
Bourneville Phakomatosis see tuberous sclerosis complex
BPES see blepharophimosis, ptosis, and epicanthus inversus 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-mental retardation syndrome see 2q37 deletion syndrome
Brain Diseases
Branched-chain alpha-keto acid dehydrogenase deficiency see maple syrup urine disease
Branched-Chain Ketoaciduria see maple syrup urine disease
Branchio-Oculo-Facial Syndrome see branchiootorenal syndrome
Branchio-Oto-Renal Syndrome see branchiootorenal syndrome
Branchio-Otorenal Dysplasia see branchiootorenal syndrome
Branchio-Otorenal Syndrome see branchiootorenal syndrome
branchiootorenal syndrome
breast cancer see breast cancer; Li-Fraumeni syndrome
Brittle bone disease see osteogenesis imperfecta
Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome
Bronze Diabetes see hemochromatosis
Bronzed cirrhosis see hemochromatosis
Brugada syndrome
Brunzell syndrome (with bone cysts) see Berardinelli-Seip congenital lipodystrophy
Bruton's agammaglobulinemia see X-linked agammaglobulinemia
BSCL see Berardinelli-Seip congenital lipodystrophy
BTD deficiency see biotinidase deficiency
Buckley syndrome see Job syndrome
Bulbospinal muscular atrophy, X-linked see spinal and bulbar muscular atrophy
Burger-Grutz syndrome see familial lipoprotein lipase deficiency
BWS see Beckwith-Wiedemann syndrome


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