Additional Disease Briefs

NORD Summit 2026 Banner Ad

brain-lung-thyroid syndrome

Also known as: BLT syndrome, CAHTP, brain-lung-thyroid syndrome, choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, choreoathetosis, hypothyroidism, and neonatal respiratory distress, choreoathetosis-hypothyroidism-neonatal respiratory distress, choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome


branched-chain keto acid dehydrogenase kinase deficiency

Also known as: BCKDK deficiency, BCKDKD, Bckdk deficiency, autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency, branched-chain KETO acid dehydrogenase KINASE deficiency, branched-chain keto acid dehydrogenase kinase deficiency


branchio-oto-renal syndrome

Also known as: Branchio oto renal syndrome, Branchio-Oto-renal syndrome, Branchio-otorenal dysplasia, Melnick-Fraser syndrome, bor syndrome, branchio-oto-renal syndrome, branchiootorenal dysplasia, branchiootorenal syndrome




branchiootic syndrome 1

Also known as: BOS1, EYA1 branchiootic syndrome, anterior segment anomalies with or without cataract, bo syndrome 1, branchiootic dysplasia, branchiootic syndrome 1, branchiootic syndrome caused by mutation in EYA1, branchiootic syndrome type 1



branchiootic syndrome 3

Also known as: BOS3, SIX1 branchiootic syndrome, bo syndrome 3, branchiootic syndrome 3, branchiootic syndrome caused by mutation in SIX1, branchiootic syndrome type 3