Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Spherophakia, Isolated | LTBP2 | microspherophakia | 251750 | autosomal recessive |
| Spinocerebellar Ataxia 1 | ATXN1 | SCA1, spinocerebellar atrophy I, Menzel type OPCA, Schut-Haymaker type OPCA, olivopontocerebellar atrophy IV, olivopontocerebellar atrophy I | 164400 | autosomal dominant |
| Spinocerebellar Ataxia 18 | GRID2 | SCAR18, autosomal recessive spinocerebellar ataxia | 616204 | autosomal recessive |
| Spinocerebellar Ataxia 3 | ATXN3 | SCA3, Machado-Joseph disease, Azorean neurologic disease, spinopontine atrophy, nigrospinodentatal degeneration | 109150 | autosomal dominant |
| Spinocerebellar Ataxia 37 | DAB1 | SCA37 | 615945 | autosomal dominant |
| Spinocerebellar Ataxia 38 | ELOVL5 | SCA38 | 615957 | autosomal dominant |
| Spinocerebellar Ataxia 42 | CACNA1G | SCA42 | 616795 | autosomal dominant |
| Spinocerebellar Ataxia 7 | ATXN7 | olivopontocerebellar atrophy III, OPCA3, SCA7, ADCA type II | 164500 | autosomal dominant |
| Spinocerebellar Ataxia, Autosomal Recessive 7 | TPP1 | SCAR7 | 609270 | autosomal recessive |
| Spinocerebellar Ataxia, Infantile-Onset | C10ORF2 | MTDPS7, IOSCA, Ohaha syndrome, spinocerebellar ataxia 8, mitochondrial DNA depletion syndrome 7 | 271245 | autosomal recessive |
| Spondyloepiphyseal Dysplasia Congenita | COL2A1 | SEDC, SED congenital | 183900 | autosomal dominant |
| Spondylometaphyseal Dysplasia, Axial | C21orf2 | axial SMD, SMDAX | 602271 | autosomal recessive |
| Spondyloocular Syndrome | XYLT2 | SOS | 605822 | autosomal recessive |
| Stargardt Disease | CNGB3, ABCA4, ELOVL4, PROM1 | fundus flavimaculatus, FFM, juvenile macular degeneration, STGD | 248200, 605512, 603786 | autosomal recessive, autosomal dominant |
| Stickler Syndrome, Type I | COL2A1 | autosomal dominant retinal detachment, type I Stickler syndrome, STL1 | 609508, 108300 | autosomal dominant |
| Stickler Syndrome, Type II | COL11A1 | STL2, vitreous type 2 Stickler syndrome, beaded vitreous type Stickler syndrome | 604841 | autosomal dominant |
| Stickler Syndrome, Type IV | COL9A2 | autosomal recessive Stickler syndrome, AR Stickler syndrome | autosomal recessive | |
| Strømme Syndrome | CENPF | apple peel intestinal atresia, STROMS, jejunal atresia with microcephaly and ocular anomalies, apple peel syndrome with microcephaly and ocular anomalies, ciliary dyskinesia primary 31 | 243605 | autosomal recessive |
| Sulfite Oxidase Deficiency | SUOX | sulfite oxidase deficiency | 272300 | autosomal recessive |
| Sweeney-Cox Syndrome | TWIST1 | SWCOS | 617746 | autosomal dominant? |
| Sweeney-Cox Syndrome | TWIST1 | SWCOS | 617746 | autosomal dominant? |