Disorders: S

Disorders Alternate Names Genes Inheritance Pattern
Saethre-Chotzen Syndrome acrocephaly, ACS III, ACS3, Chotzen syndrome, SCS, syndactyly type III FGFR2, TWIST1 autosomal dominant
Sandhoff Disease GM2-gangliosidosis type II HEXB autosomal recessive
Sanfilippo Syndrome (MPS IIIA, B, C, D) MPS III, MPS3 GHSNAT, GNS, NAGLU, SGSH autosomal recessive
Schurrs-Hoeijmakers Syndrome autosomal dominant mental retardation 17, MRD17, SHMS PACS1 autosomal dominant
Sclerocornea ? autosomal dominant, autosomal recessive
Sengers Syndrome cardiomyopathy and cataract, mitochondrial DNA depletion syndrome 10, MTDPS10 AGK autosomal recessive
Senior-Loken Syndromes juvenile nephronophthisis with Leber amaurosis, renal-retinal syndrome, SLEBS8, SLNS3, SLNS4, SLNS5, SLNS6, SLSN1, SLSN7 SLNS3, SLNS4, SLNS5 (IQCB1), SLNS6 (CEP290), SLSN1, SLSN7 (SDCCAG8), SLSN8(WDR19) autosomal recessive
Septooptic Dysplasia de Morsier syndrome HESX1 autosomal recessive
Setleis Syndrome bitemporal forceps marks syndrome, facial ectodermal dysplasia, FFDD3, focal facial dermal dysplasia 3 TWIST2 autosomal recesssive
SHORT Syndrome lipodystrophy with Rieger anomalies and short stature PIK3R1 autosomal dominant
Short-Rib Thoracic Dysplasia 9 conorenal syndrome, Mainzer-Saldino Syndrome, SRTD9 IFT140 autosomal recessive
Sickle Cell Anemia sickle cell disease, sickle cell hemoglobinopathy HBB autosomal recessive
Singleton-Merten Syndrome 1 SGMRT1 IFIH1 autosomal dominant
Singleton-Merten Syndrome 2 SGMRT2 DDX58 autosomal dominant
Sjogren-Larsson Syndrome FALDH deficiency, fatty aldehyde dehydrogenase deficiency, SLS ALDH3A2 autosomal recessive
Smith-Lemli-Opitz Syndrome lethal acrodysgenital syndrome, RSH syndrome, SLO syndrome DHCR7 autosomal recessive
Smith-Magenis Syndrome Chromosome 17p11.2 deletion syndrome, SMS RAI1 autosomal dominant
Sorsby Macular Coloboma Syndrome apical dystrophy, Sorsby syndrome ? autosomal dominant
Sorsby Pseudoinflammatory Fundus Dystrophy hemorrhagic macular dystrophy, SFD, Sorsby Fundus Dystrophy TIMP3 autosomal dominant
Spastic Ataxia 2 SPAX2 KIF1C autosomal recessive
Spastic Ataxia 4, mtPAP Deficiency SPAX4 MTPAP autosomal recessive
Spastic Ataxia 6, Charlevoix-Saguenay Type ARSACS, Charlevoix-Saguenay spastic ataxia, SACS, spastic ataxia 6, SPAX6 SACS autosomal recessive
Spastic Ataxia 7, with Miosis congenital miosis with spastic ataxia, spastic ataxia 7, spastic ataxia with congenital miosis, SPAX7 ? autosomal dominant?
Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy SPAX8 NKX6B autosomal recessive
Spastic Ataxia, Optic Atrophy, Mental Retardation ? autosomal recessive?
Spastic Paraplegia 11 complicated autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum, GSP-TCC, SPG11 SPG11 autosomal recessive
Spastic Paraplegia 15 Kjellin syndrome, spastic paraplegia and retinal degeneration, SPG 15 ZFYVE26 autosomal recessive
Spastic Paraplegia 2 SPG2, SPPX2, X-linked spastic paraplegia PLP1 X-linked recessive
Spastic Paraplegia 46 SPG46 GBA2 autosomal recessive
Spastic Paraplegia 5A SPG5A CYP7B1 autosomal recessive
Spastic Paraplegia 7 SPG7 SPG7 autosomal recessive
Spastic Paraplegia 74 SPG74 IBA57 autosomal recessive
Spastic Paraplegia 75 SPG75 MAG autosomal recessive
Spastic Paraplegia 78 SPG78 ATP13A2 autosomal recessive
Spastic Paraplegia with Psychomotor Retardation and Seizures SPPRS HACE1 autosomal recessive
Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity SINO KIDINS220 autosomal dominant?
Spastic Paraplegia, Optic Atrophy, and Neuropathy SPOAN KLC2 autosomal recessive
Spherophakia and Metaphyseal Dysplasia ? autosomal dominant?
Spherophakia with Inguinal Hernia ? autosomal dominant
Spherophakia, Isolated microspherophakia LTBP2 autosomal recessive
Spinocerebellar Ataxia 1 Menzel type OPCA, olivopontocerebellar atrophy I, olivopontocerebellar atrophy IV, SCA1, Schut-Haymaker type OPCA, spinocerebellar atrophy I ATXN1 autosomal dominant
Spinocerebellar Ataxia 18 autosomal recessive spinocerebellar ataxia, SCAR18 GRID2 autosomal recessive
Spinocerebellar Ataxia 3 Azorean neurologic disease, Machado-Joseph disease, nigrospinodentatal degeneration, SCA3, spinopontine atrophy ATXN3 autosomal dominant
Spinocerebellar Ataxia 37 SCA37 DAB1 autosomal dominant
Spinocerebellar Ataxia 38 SCA38 ELOVL5 autosomal dominant
Spinocerebellar Ataxia 42 SCA42 CACNA1G autosomal dominant
Spinocerebellar Ataxia 7 ADCA type II, olivopontocerebellar atrophy III, OPCA3, SCA7 ATXN7 autosomal dominant
Spinocerebellar Ataxia, Autosomal Recessive 7 SCAR7 TPP1 autosomal recessive
Spinocerebellar Ataxia, Infantile-Onset IOSCA, mitochondrial DNA depletion syndrome 7, MTDPS7, Ohaha syndrome, spinocerebellar ataxia 8 C10ORF2 autosomal recessive
Spondyloepiphyseal Dysplasia Congenita SED congenital, SEDC COL2A1 autosomal dominant
Spondylometaphyseal Dysplasia, Axial axial SMD, SMDAX C21orf2 autosomal recessive
Spondyloocular Syndrome SOS XYLT2 autosomal recessive
Stargardt Disease FFM, fundus flavimaculatus, juvenile macular degeneration, STGD ABCA4, CNGB3, ELOVL4, PROM1 autosomal dominant, autosomal recessive
Stickler Syndrome, Type I autosomal dominant retinal detachment, STL1, type I Stickler syndrome COL2A1 autosomal dominant
Stickler Syndrome, Type II beaded vitreous type Stickler syndrome, STL2, vitreous type 2 Stickler syndrome COL11A1 autosomal dominant
Stickler Syndrome, Type IV AR Stickler syndrome, autosomal recessive Stickler syndrome COL9A2 autosomal recessive
Strømme Syndrome apple peel intestinal atresia, apple peel syndrome with microcephaly and ocular anomalies, ciliary dyskinesia primary 31, jejunal atresia with microcephaly and ocular anomalies, STROMS CENPF autosomal recessive
Sulfite Oxidase Deficiency sulfite oxidase deficiency SUOX autosomal recessive
Sweeney-Cox Syndrome SWCOS TWIST1 autosomal dominant?
Sweeney-Cox Syndrome SWCOS TWIST1 autosomal dominant?