GeneReviews
0-9 | A-B | C-D | E-F | G-H | I-J | K-L | M-N | O-P | Q-R | S-T | U-V | W-X | Y-Z
- Saethre-Chotzen Syndrome
- Salih Myopathy
- SALL4-Related Disorders
- Schimke Immunoosseous Dysplasia
- SCN1A-Related Seizure Disorders
- SCN9A-Related Inherited Erythromelalgia
- Short Chain Acyl-CoA Dehydrogenase Deficiency
- SHOX-Related Haploinsufficiency Disorders
- Shprintzen-Goldberg Syndrome
- Shwachman-Diamond Syndrome
- Sialuria
- Sickle Cell Disease
- Simpson-Golabi-Behmel Syndrome Type 1
- Sitosterolemia
- Smith-Lemli-Opitz Syndrome
- Smith-Magenis Syndrome
- Snyder-Robinson Syndrome
- SOST-Related Sclerosing Bone Dysplasias
- Sotos Syndrome
- SOX2-Related Eye Disorders
- Spastic Paraplegia 11
- Spastic Paraplegia 3A
- Spastic Paraplegia 4
- Spastic Paraplegia 7
- Spastic Paraplegia 8
- Spinal and Bulbar Muscular Atrophy
- Spinal Muscular Atrophy
- Spinal Muscular Atrophy, X-Linked Infantile
- Spinocerebellar Ataxia Type 1
- Spinocerebellar Ataxia Type 2
- Spinocerebellar Ataxia Type 3
- Spinocerebellar Ataxia Type 6
- Spinocerebellar Ataxia Type 7
- Spinocerebellar Ataxia Type 8
- Spinocerebellar Ataxia Type10
- Spinocerebellar Ataxia Type11
- Spinocerebellar Ataxia Type12
- Spinocerebellar Ataxia Type13
- Spinocerebellar Ataxia Type14
- Spinocerebellar Ataxia Type15
- Spinocerebellar Ataxia Type17
- Spinocerebellar Ataxia Type20
- Spinocerebellar Ataxia Type28
- Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive
- Spondylocostal Dysostosis, Autosomal Recessive
- Spondyloepiphyseal Dysplasia Tarda, X-Linked
- Spondylothoracic Dysostosis
- Stickler Syndrome
- Succinic Semialdehyde Dehydrogenase Deficiency
- SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria
- SYNE1-Related Autosomal Recessive Cerebellar Ataxia
- Systemic Primary Carnitine Deficiency
- TARDBP-Related Amyotrophic Lateral Sclerosis
- TBX5-Related Holt-Oram Syndrome
- Tetra-Amelia Syndrome
- TFR2-Related Hereditary Hemochromatosis
- Thanatophoric Dysplasia
- Thiamine-Responsive Megaloblastic Anemia Syndrome
- Thoracic Aortic Aneurysms and Aortic Dissections
- Thrombocytopenia Absent Radius Syndrome
- Timothy Syndrome
- TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form
- Tourette Syndrome
- Townes-Brocks Syndrome
- Treacher Collins Syndrome
- Trimethylaminuria
- Troyer Syndrome
- Tuberous Sclerosis Complex
- Tyrosine Hydroxylase Deficiency
- Tyrosinemia Type I