Additional Disease Briefs

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Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
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Rare Disease Database Reports Additional Rare Disease Briefs
Brown-Vialetto-van Laere syndrome 1

Also known as: BVVLS1, Brown-Vialetto-Van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3, RTD2, Riboflavin transporter deficiency 2, SLC52A3 Brown-Vialetto-van Laere syndrome, bulbar palsy, progressive, with sensorineural deafness, pontobulbar palsy with deafness, rfvt2-related riboflavin transporter deficiency

brown-Vialetto-van Laere syndrome 2

Also known as: BVVLS2, Brown-Vialetto-Van Laere syndrome type 2, Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2, SLC52A2 Brown-Vialetto-van Laere syndrome

Bruck syndrome

Also known as: osteogenesis imperfecta with congenital joint contractures, osteogenesis imperfecta-congenital joint contractures syndrome

Bruck syndrome 1

Also known as: BRKS1, Bruck syndrome 1, Bruck syndrome caused by mutation in FKBP10, Bruck syndrome type 1, FKBP10 Bruck syndrome, Kuskokwim disease, arthrogryposis-like disorder

Bruck syndrome 2

Also known as: BRKS2, Bruck syndrome 2, Bruck syndrome caused by mutation in PLOD2, Bruck syndrome type 2, PLOD2 Bruck syndrome, osteogenesis imperfecta with congenital Joint contractures

Brugada syndrome 6

Also known as: BRGDA6, Brugada syndrome 6, Brugada syndrome caused by mutation in KCNE3, Brugada syndrome type 6, KCNE3 Brugada syndrome

Brunner syndrome

Also known as: BRNRS, Brunner syndrome, Brunner syndrome, X-linked recessive, antisocial behavior, X-linked recessive, antisocial behavior, susceptibility to, monoamine oxidase A deficiency

Bruton-type agammaglobulinemia

Also known as: BTK deficiency, BTK-deficiency, Bruton agammaglobulinemia tyrosine kinase deficiency, Bruton type agammaglobulinemia, Bruton's Sex-linked agammaglobulinemia, Bruton's X-linked agammaglobulinemia, Bruton's agammaglobulinaemia, Bruton's agammaglobulinemia, Bruton's type agammaglobulinemia, Bruton-type agammaglobulinemia, X-linked agammaglobulinemia, XLA, agammaglobulinemia, BTK, agammaglobulinemia, Bruton tyrosine kinase, agammaglobulinemia, X-linked, agammaglobulinemia, X-linked 1, X-linked recessive, agammaglobulinemia, X-linked, type 1, hypogammaglobulinemia, X-linked, immunodeficiency 1

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