Genetic Conditions - B

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Genetic Conditions…

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B variant GM2 gangliosidosis see Tay-Sachs disease

BANF see neurofibromatosis 2

Bartholin-Patau syndrome see Patau syndrome

BCKD deficiency see maple syrup urine disease

BDLS see Cornelia de Lange syndrome

Beare-Stevenson cutis gyrata syndrome

Benign paroxysmal peritonitis see familial Mediterranean fever

beta thalassemia

BH4 Deficiency see tetrahydrobiopterin deficiency

BHD see Birt-Hogg-Dubé syndrome

Bilateral Acoustic Neurofibromatosis see neurofibromatosis 2

Bile Duct Diseases see Alagille syndrome

Bile ducts paucity, syndromic form see Alagille syndrome

biotinidase deficiency

Birt-Hogg-Dubé syndrome

Bleeding Disorders see factor V Leiden thrombophilia

Bloch-Sulzberger Syndrome see incontinentia pigmenti

Blood and Blood Disorders see glucose-6-phosphate dehydrogenase deficiency

Bone Marrow Diseases see X-linked sideroblastic anemia

Bonnevie-Ullrich Syndrome see Turner syndrome

Bourneville Disease see tuberous sclerosis

Bourneville Phakomatosis see tuberous sclerosis

Brachmann-De Lange Syndrome see Cornelia de Lange syndrome

Brain Diseases see prion disease

Branched-chain alpha-keto acid dehydrogenase deficiency see maple syrup urine disease

Branched-Chain Ketoaciduria see maple syrup urine disease

Brittle bone disease see osteogenesis imperfecta

Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome

Bronze Diabetes see hemochromatosis

Bronzed cirrhosis see hemochromatosis

Bulbospinal muscular atrophy, X-linked see spinal and bulbar muscular atrophy

Burger-Grutz syndrome see familial lipoprotein lipase deficiency