Spondyloepimetaphyseal dysplasia, Strudwick |
approved
|
184250 |
|
|
Spondyloepiphyseal Dysplasia Congenita |
approved
|
183900 |
|
Spondyloepiphyseal dysplasia tarda, X-linked (SEDT) |
approved
|
313400 |
|
|
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (SEDCJD) |
approved
|
143095 |
|
|
Spondylo-epiphyseal dysplasia, Maroteaux type |
approved
|
184095 |
|
|
Spondylometaepiphyseal Dysplasia Short Limb Hand type (SMED-SL) |
approved
|
271665 |
|
|
Spondylometaphyseal dysplasia, Kozlowski type (SMDK) |
approved
|
184252 |
|
|
Stargardt disease type 1 |
approved
|
248200 |
|
|
Stickler Syndrome Type I, II, III and IV |
approved
|
108300, 609508, 604841, 184840, 614134 |
|
|
Stuve-Wiedemann Syndrome (Schwartz-Jampel Type 2 syndrome) |
approved
|
601559 |
|
Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) |
approved
|
271980 |
|
Sudden Cardiac Failure, Alcohol Induced (SCFAI) |
approved
|
617223 |
|
Sudden Cardiac Failure, Infantile (SCFI) |
approved
|
617222 |
|
|
Surfactant Metabolism Dysfunction, Pulmonary Type 1 (SMDP1) |
approved
|
265120 |
|
|
Surfactant Metabolism Dysfunction, Pulmonary Type 3 (SMDP3) |
approved
|
610921 |
|
|
Surfactant Metabolism Dysfunction, Pulmonary, Type 2 (SMDP2) |
approved
|
610913 |
|
|
Susceptibility to breast cancer due to a mutation in the c.7271T>G Ataxia-Telangiectasia Mutated (ATM) Gene |
approved
|
*607585 |
|
|
Syndromic Microphthalmia 1 (MCOPS1) (Lenz syndrome) |
approved
|
309800 |
|
Syndromic Microphthalmia 12 (MCOPS12) |
approved
|
615524 |
|
|
Tay Sachs Disease (infantile onset) (TSD) |
approved
|
272800 |
|