Additional Disease Briefs

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Sorsby fundus dystrophy

Also known as: SFD, Sorsby fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, Sorsby's fundus dystrophy, Sorsby's pseudoinflammatory macular dystrophy, fundus dystrophy, pseudoinflammatory, of Sorsby, hemorrhagic macular dystrophy, macular dystrophy, hemorrhagic, pseudoinflammatory fundus dystrophy of Sorsby


southeast Asian ovalocytosis

Also known as: Melanesian elliptocytosis, Melanesian ovalocytosis, SAO, elliptocytosis 4, elliptocytosis, stomatocytic hereditary, he, stomatocytic, hereditary ovalocytosis, ovalocytosis, Malaysian-Melanesian-Filipino type, ovalocytosis, SA type, ovalocytosis, hereditary hemolytic, ovalocytosis, southeast Asian, sao, stomatocytic elliptocytosis




spastic ataxia 2

Also known as: KIF1C spastic ataxia, SPAX2, SPG58, autosomal recessive spastic ataxia type 2, autosomal recessive spastic paraplegia type 58, spastic ataxia 2, spastic ataxia 2, autosomal recessive, spastic ataxia caused by mutation in KIF1C, spastic ataxia type 2


spastic ataxia 3

Also known as: ARSAL, MARS2 autosomal recessive spastic ataxia, SPAX3, autosomal recessive spastic ataxia caused by mutation in MARS2, autosomal recessive spastic ataxia type 3, autosomal recessive spastic ataxia with leukoencephalopathy, spastic ataxia 3, autosomal recessive, spastic ataxia type 3


spastic ataxia 4

Also known as: MTPAP autosomal recessive spastic ataxia, SPAX4, autosomal recessive spastic ataxia - optic atrophy - dysarthria, autosomal recessive spastic ataxia 4, autosomal recessive spastic ataxia caused by mutation in MTPAP, autosomal recessive spastic ataxia type 4, autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome, spastic ataxia 4, autosomal recessive, spastic ataxia type 4


spastic ataxia 5

Also known as: AFG3L2 autosomal recessive spastic ataxia, AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome, AFG3L2-related spastic ataxia-neuropathy syndrome, SPAX5, autosomal recessive spastic ataxia caused by mutation in AFG3L2, autosomal recessive spastic ataxia type 5, early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome, spastic ataxia 5, autosomal recessive, spastic ataxia type 5