Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Saethre-Chotzen Syndrome | TWIST1, FGFR2 | SCS, ACS3, ACS III, Chotzen syndrome, acrocephaly, syndactyly type III | 101400 | autosomal dominant |
| Sandhoff Disease | HEXB | GM2-gangliosidosis type II | 268800 | autosomal recessive |
| Sanfilippo Syndrome (MPS IIIA, B, C, D) | SGSH, NAGLU, GHSNAT, GNS | MPS3, MPS III | 252900, 252920, 252930, 252940 | autosomal recessive |
| Schurrs-Hoeijmakers Syndrome | PACS1 | SHMS, MRD17, autosomal dominant mental retardation 17 | 615009 | autosomal dominant |
| Sclerocornea | ? | 269400, 181700 | autosomal recessive, autosomal dominant | |
| Sengers Syndrome | AGK | mitochondrial DNA depletion syndrome 10, cardiomyopathy and cataract, MTDPS10 | 212350 | autosomal recessive |
| Senior-Loken Syndromes | SLSN1, SLNS3, SLNS4, SLNS5 (IQCB1), SLNS6 (CEP290), SLSN7 (SDCCAG8), SLSN8(WDR19) | SLSN1, SLNS3, SLNS4, SLNS5, SLNS6, renal-retinal syndrome, juvenile nephronophthisis with Leber amaurosis, SLSN7, SLEBS8 | 266900, 606995, 606996, 609354, 610189, 616307 | autosomal recessive |
| Septooptic Dysplasia | HESX1 | de Morsier syndrome | 182230 | autosomal recessive |
| Setleis Syndrome | TWIST2 | bitemporal forceps marks syndrome, facial ectodermal dysplasia, focal facial dermal dysplasia 3, FFDD3 | 227260 | autosomal recesssive |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies | EXOSC2 | SHRF | 617763 | autosomal recessive |
| SHORT Syndrome | PIK3R1 | lipodystrophy with Rieger anomalies and short stature | 269880 | autosomal dominant |
| Short-Rib Thoracic Dysplasia 9 | IFT140 | SRTD9, Mainzer-Saldino Syndrome, conorenal syndrome | 266920 | autosomal recessive |
| Sickle Cell Anemia | HBB | sickle cell disease, sickle cell hemoglobinopathy | 603903 | autosomal recessive |
| Singleton-Merten Syndrome 1 | IFIH1 | SGMRT1 | 182250 | autosomal dominant |
| Singleton-Merten Syndrome 2 | DDX58 | SGMRT2 | 616298 | autosomal dominant |
| Sjogren-Larsson Syndrome | ALDH3A2 | SLS, FALDH deficiency, fatty aldehyde dehydrogenase deficiency | 270200 | autosomal recessive |
| Smith-Lemli-Opitz Syndrome | DHCR7 | SLO syndrome, RSH syndrome, lethal acrodysgenital syndrome | 270400 | autosomal recessive |
| Smith-Magenis Syndrome | RAI1 | SMS, Chromosome 17p11.2 deletion syndrome | 182290 | autosomal dominant |
| Sorsby Macular Coloboma Syndrome | ? | apical dystrophy, Sorsby syndrome | 120400 | autosomal dominant |
| Sorsby Pseudoinflammatory Fundus Dystrophy | TIMP3 | SFD, hemorrhagic macular dystrophy, Sorsby Fundus Dystrophy | 136900, 264420 | autosomal dominant |
| Spastic Ataxia 2 | KIF1C | SPAX2 | 611302 | autosomal recessive |
| Spastic Ataxia 4, mtPAP Deficiency | MTPAP | SPAX4 | 613672 | autosomal recessive |
| Spastic Ataxia 6, Charlevoix-Saguenay Type | SACS | SACS, ARSACS, spastic ataxia 6, SPAX6, Charlevoix-Saguenay spastic ataxia | 270550 | autosomal recessive |
| Spastic Ataxia 7, with Miosis | ? | congenital miosis with spastic ataxia, SPAX7, spastic ataxia with congenital miosis, spastic ataxia 7 | 108650 | autosomal dominant? |
| Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy | NKX6B | SPAX8 | 617560 | autosomal recessive |
| Spastic Ataxia, Optic Atrophy, Mental Retardation | ? | 270500 | autosomal recessive? | |
| Spastic Paraplegia 11 | SPG11 | SPG11, GSP-TCC, complicated autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum | 604360 | autosomal recessive |
| Spastic Paraplegia 15 | ZFYVE26 | Kjellin syndrome, spastic paraplegia and retinal degeneration, SPG 15 | 270700 | autosomal recessive |
| Spastic Paraplegia 2 | PLP1 | X-linked spastic paraplegia, SPG2, SPPX2 | 312920 | X-linked recessive |
| Spastic Paraplegia 46 | GBA2 | SPG46 | 614409 | autosomal recessive |
| Spastic Paraplegia 5A | CYP7B1 | SPG5A | 270800 | autosomal recessive |
| Spastic Paraplegia 7 | SPG7 | SPG7 | 607259 | autosomal recessive |
| Spastic Paraplegia 74 | IBA57 | SPG74 | 616451 | autosomal recessive |
| Spastic Paraplegia 75 | MAG | SPG75 | 616680 | autosomal recessive |
| Spastic Paraplegia 78 | ATP13A2 | SPG78 | 617225 | autosomal recessive |
| Spastic Paraplegia with Psychomotor Retardation and Seizures | HACE1 | SPPRS | 616756 | autosomal recessive |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity | KIDINS220 | SINO | 617296 | autosomal dominant? |
| Spastic Paraplegia, Optic Atrophy, and Neuropathy | KLC2 | SPOAN | 609541 | autosomal recessive |
| Spherophakia and Metaphyseal Dysplasia | ? | 157151 | autosomal dominant? | |
| Spherophakia with Inguinal Hernia | ? | 157150 | autosomal dominant |