Additional Disease Briefs

NORD Summit 2026 Banner Ad



autosomal dominant vitreoretinochoroidopathy

Also known as: ADVIRC, VRCP, VRCP autosomal dominant, microcornea, Rod-cone dystrophy, cataract, and posterior staphyloma, vitreoretinochoroidopathy, vitreoretinochoroidopathy dominant, vitreoretinochoroidopathy with microcornea, glaucoma, and cataract, vitreoretinochoroidopathy, autosomal dominant, vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos





autosomal recessive Alport syndrome

Also known as: Alport syndrome 2, autosomal recessive, Alport syndrome autosomal recessive, Alport syndrome recessive type, Alport syndrome, autosomal recessive, nephropathy and deafness




autosomal recessive ataxia due to ubiquinone deficiency

Also known as: ARCA2, COQ10D4, SCAR9, autosomal recessive ataxia due to coenzyme Q10 deficiency, autosomal recessive cerebellar ataxia type 2, autosomal recessive spinocerebellar ataxia 9, autosomal recessive spinocerebellar ataxia type 9, coenzyme Q10 deficiency, primary, 4, coenzyme Q10 deficiency, primary, type 4, spinocerebellar ataxia, autosomal recessive 9