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Saethre-Chotzen Syndrome Tests GeneReview OMIM
Robinow-Sorauf Syndrome
Saethre-Chotzen Syndrome, FGFR2-Related Tests OMIM
Salih Myopathy Tests GeneReview OMIM
SALL4-Related Disorders Tests GeneReview OMIM
Acro-Renal-Ocular Syndrome OMIM
Duane-Radial Ray Syndrome OMIM
SALL4-Related Holt-Oram Syndrome
Sandhoff Disease Tests OMIM
Sarcosinemia Tests OMIM
Scapuloperoneal Myopathy, MYH7-Related Tests OMIM
Scapuloperoneal Myopathy, X-Linked Dominant Tests OMIM
Scapuloperoneal Spinal Muscular Atrophy Tests OMIM
Schimke Immunoosseous Dysplasia Tests GeneReview OMIM
Schindler Disease Tests OMIM
Schinzel-Giedion Midface Retraction Syndrome Tests OMIM
Schizophrenia 4 Tests OMIM
Schneckenbecken Dysplasia OMIM
Schopf-Schulz-Passarge Syndrome Tests OMIM
Schwannomatosis Tests OMIM
Schwartz-Jampel Syndrome, Type 1 Tests OMIM
SCN1A-Related Seizure Disorders Tests GeneReview OMIM
SCN1A- Related Generalized Epilepsy with Febrile Seizures Plus
SCN1A-Related Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures
SCN1A-Related Intractable Infantile Partial Seizures
SCN1A-Related Myoclonic-Astatic Epilepsy
SCN1A-Related Severe Myoclonic Epilepsy in Infancy
SCN1A-Related Simple Febrile Seizures
SCN1B-Related Cardiac Conduction Defect, Nonspecific Tests OMIM
SCN1B-Related Generalized Epilepsy with Febrile Seizures Plus Tests OMIM
SCN5A-Related Disorders Tests OMIM
Progressive Familial Heart Block, Type IA OMIM
SCN5A-Associated Dilated Cardiomyopathy OMIM
SCN5A-Related Brugada Syndrome OMIM
SCN5A-Related Romano Ward Syndrome OMIM
Sick Sinus Syndrome 1, Autosomal Recessive OMIM
SCN9A-Related Dravet Syndrome Tests OMIM
SCN9A-Related Generalized Epilepsy with Febrile Seizures Plus Tests OMIM
SCN9A-Related Inherited Erythromelalgia Tests GeneReview OMIM
SDHB-Related Paraganglioma and Gastric Stromal Sarcoma Tests OMIM
SDHC-Related Paraganglioma and Gastric Stromal Sarcoma Tests OMIM
SDHD-Related Paraganglioma and Gastric Stromal Sarcoma Tests OMIM
Seckel Syndrome OMIM
Seckel Syndrome 1 Tests OMIM
Seckel Syndrome 2 Tests OMIM
Seckel Syndrome 4 Tests OMIM
Seckel Syndrome 5 Tests OMIM
Seckel Syndrome 6 Tests OMIM
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome Tests OMIM
Sengers Syndrome Tests OMIM
Senior-Loken Syndrome OMIM
Senior-Loken Syndrome 1 Tests OMIM
Senior-Loken Syndrome 4 Tests OMIM
Senior-Loken Syndrome 5 Tests OMIM
Senior-Loken Syndrome 6 Tests OMIM
Senior-Loken Syndrome 7 Tests OMIM
Senior-Loken Syndrome Multi-Gene Panels Tests
Septooptic Dysplasia Tests OMIM
HESX1-Related Combined Pituitary Hormone Deficiency OMIM
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN) Tests OMIM
Severe Combined Immune Deficiency Multi-Gene Panels Tests
Severe Combined Immune Deficiency, Autosomal Recessive T Cell-Negative, B Cell-Positive, NK Cell-Positive, IL7R-Related Tests OMIM
Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, RAG1/RAG2-Related Tests OMIM
Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative, JAK3-Related Tests OMIM
Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Positive, CD3D-Related Tests OMIM
Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Positive, CD3E-Related Tests OMIM
Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation Tests OMIM
Severe Congenital Neutropenia, Autosomal Dominant, 2 Tests OMIM
Severe Congenital Neutropenia, Autosomal Recessive, 3 Tests OMIM
Severe Congenital Neutropenia, Autosomal Recessive, 4 Tests OMIM
Short Chain Acyl-CoA Dehydrogenase Deficiency Tests GeneReview OMIM
Short QT Syndrome OMIM
Short QT Syndrome 1 Tests OMIM
Short QT Syndrome 2 Tests OMIM
Short QT Syndrome 3 Tests OMIM
Short QT Syndrome Multi-Gene Panels Tests
Short Rib Polydactyly Syndrome, Majewski Type Tests OMIM
Short Rib Polydactyly Syndrome, Saldino-Noonan Type OMIM
Short Rib Polydactyly Syndrome, Verma-Naumoff Type Tests OMIM
Short Rib-Polydactyly Syndrome, Type V Tests OMIM
SHOX-Related Haploinsufficiency Disorders Tests GeneReview OMIM
Leri-Weill Dyschondrosteosis OMIM
SHOX-Related Short Stature OMIM
Shprintzen-Goldberg Syndrome Tests GeneReview OMIM
Shwachman-Diamond Syndrome Tests GeneReview OMIM
Sialuria Tests GeneReview OMIM
Sick Sinus Syndrome 2, Autosomal Dominant Tests OMIM
Sickle Cell Disease GeneReview OMIM
Hemoglobin S Beta-Thalassemia Tests OMIM
Hemoglobin SC Tests OMIM
Hemoglobin SD Tests OMIM
Hemoglobin SO Tests OMIM
Hemoglobin SS Tests OMIM
Siderius X-Linked Mental Retardation Syndrome Tests OMIM
Simpson-Golabi-Behmel Syndrome Type 1 GeneReview OMIM
GPC3-Related Simpson-Golabi-Behmel Syndrome Type 1 Tests OMIM
GPC4-Related Simpson-Golabi-Behmel Syndrome Type 1 OMIM
Simpson-Golabi-Behmel Syndrome, Type 2 Tests OMIM
Sitosterolemia Tests GeneReview OMIM
Sjogren-Larsson Syndrome Tests OMIM
Skeletal Dysplasia Multi-Gene Panels Tests
Skin Fragility-Woolly Hair Syndrome Tests OMIM
SLC40A1-Related Hereditary Hemochromatosis Tests OMIM
SLC4A1-Related Spherocytosis Tests OMIM
SLC6A20-Related Hyperglycinuria Tests OMIM
SLC6A4-Related Behavior Disorders Tests OMIM
SLC9A6-Related Syndromic Mental Retardation Tests OMIM
SMAD9-Related Heritable Pulmonary Arterial Hypertension Tests OMIM
Small Fiber Neuropathy Tests OMIM
Small Patella Syndrome Tests OMIM
Smith-Lemli-Opitz Syndrome Tests GeneReview OMIM
Smith-Magenis Syndrome Tests GeneReview OMIM
Smith-McCort Dysplasia Tests OMIM
Snyder-Robinson Syndrome Tests GeneReview OMIM
SOST-Related Sclerosing Bone Dysplasias Tests GeneReview OMIM
Sclerosteosis
van Buchem Disease
Sotos Syndrome Tests GeneReview OMIM
Spastic Paraplegia 10 Tests OMIM
Spastic Paraplegia 11 Tests GeneReview OMIM
SPG11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum
Spastic Paraplegia 12 Tests OMIM
Spastic Paraplegia 13 Tests OMIM
Spastic Paraplegia 15 Tests OMIM
Spastic Paraplegia 30 Tests OMIM
Spastic Paraplegia 31 Tests OMIM
Spastic Paraplegia 33 Tests OMIM
Spastic Paraplegia 39 Tests OMIM
Spastic Paraplegia 3A Tests GeneReview OMIM
Spastic Paraplegia 4 Tests GeneReview OMIM
Spastic Paraplegia 42 Tests OMIM
Spastic Paraplegia 48 Tests OMIM
Spastic Paraplegia 5A Tests OMIM
Spastic Paraplegia 6 Tests OMIM
Spastic Paraplegia 7 Tests GeneReview OMIM
Spastic Paraplegia 8 Tests GeneReview OMIM
Speech-Language Disorder 1 Tests OMIM
Spermatogenic Failure 5 Tests OMIM
Spermatogenic Failure 6 Tests OMIM
Spermatogenic Failure 8 Tests OMIM
Spermatogenic Failure 9 Tests OMIM
Spheroid Body Myopathy Tests OMIM
Spinal and Bulbar Muscular Atrophy Tests GeneReview OMIM
Spinal Muscular Atrophy GeneReview OMIM
Spinal Muscular Atrophy (SMN1) Tests OMIM
Spinal Muscular Atrophy (SMN2) Tests OMIM
Spinal Muscular Atrophy with Respiratory Distress 1 Tests OMIM
Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant Tests OMIM
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant Tests OMIM
Spinal Muscular Atrophy, X-Linked Infantile Tests GeneReview OMIM
Spinocerebellar Ataxia Type 1 Tests GeneReview OMIM
Spinocerebellar Ataxia Type 2 Tests GeneReview OMIM
Spinocerebellar Ataxia Type 3 Tests GeneReview OMIM
Spinocerebellar Ataxia Type 5 Tests OMIM
Spinocerebellar Ataxia Type 6 Tests GeneReview OMIM
Spinocerebellar Ataxia Type 7 Tests GeneReview OMIM
Spinocerebellar Ataxia Type 8 Tests GeneReview OMIM
Spinocerebellar Ataxia Type10 Tests GeneReview OMIM
Spinocerebellar Ataxia Type11 Tests GeneReview OMIM
Spinocerebellar Ataxia Type12 Tests GeneReview OMIM
Spinocerebellar Ataxia Type13 Tests GeneReview OMIM
Spinocerebellar Ataxia Type14 Tests GeneReview OMIM
Spinocerebellar Ataxia Type15 Tests GeneReview OMIM
Spinocerebellar Ataxia Type17 Tests GeneReview OMIM
Spinocerebellar Ataxia Type20 GeneReview OMIM
Spinocerebellar Ataxia Type23 Tests OMIM
Spinocerebellar Ataxia Type27 Tests OMIM
Spinocerebellar Ataxia Type28 Tests GeneReview OMIM
Spinocerebellar Ataxia Type35 Tests OMIM
Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive Tests GeneReview OMIM
Spinocerebellar Ataxia, Autosomal Recessive, 10 Tests OMIM
Spinocerebellar Ataxia, Autosomal Recessive, 9 Tests OMIM
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Tests OMIM
Spondyloarthropathy, Susceptibility to Tests OMIM
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like Tests OMIM
Spondylocostal Dysostosis OMIM
Spondylocostal Dysostosis, Autosomal Dominant OMIM
Spondylocostal Dysostosis, Autosomal Recessive GeneReview OMIM
DLL3-Related Spondylocostal Dysostosis, Autosomal Recessive Tests OMIM
HES7-Related Spondylocostal Dysostosis, Autosomal Recessive Tests OMIM
LFNG-Related Spondylocostal Dysostosis, Autosomal Recessive Tests OMIM
MESP2-Related Spondylocostal Dysostosis, Autosomal Recessive Tests OMIM
Spondylocostal Dysostosis, Autosomal Recessive, Multi-Gene Panels Tests
Spondyloenchondrodysplasia with Immune Dysregulation Tests OMIM
Spondyloepimetaphyseal Dysplasia, Missouri Type Tests OMIM
Spondyloepiphyseal Dysplasia Tarda, X-Linked Tests GeneReview OMIM
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type Tests OMIM
Spondylometaphyseal Dysplasia, Kozlowski Type Tests OMIM
Spondylometaphyseal Dysplasia, Sedaghatian Type OMIM
Spondylothoracic Dysostosis Tests GeneReview OMIM
Spontaneous Pneumothorax Tests OMIM
SPTA1-Related Spherocytosis Tests OMIM
SPTB-Related Spherocytosis Tests OMIM
Stapes Ankylosis with Broad Thumb and Toes Tests OMIM
Stargardt Disease 3 Tests OMIM
Stargardt Disease 4 Tests OMIM
Stargardt Disease Multi-Gene Panels Tests
Stargardt Disease, Autosomal Recessive OMIM
ABCA4-Related Stargardt Disease 1 Tests OMIM
CNGB3-Related Stargardt Disease 1 Tests OMIM
Steatocystoma Multiplex Tests OMIM
Steroid 5-Alpha-Reductase Deficiency Tests OMIM
Stickler Syndrome GeneReview OMIM
COL11A1-Related Stickler Syndrome Tests OMIM
COL11A2-Related Stickler Syndrome Tests OMIM
COL2A1-Related Stickler Syndrome Tests OMIM
COL9A1-Related Stickler Syndrome Tests OMIM
COL9A2-Related Stickler Syndrome Tests OMIM
Stiff Skin Syndrome Tests OMIM
Stocco dos Santos X-Linked Mental Retardation Syndrome Tests OMIM
Striatal Degeneration, Autosomal Dominant Tests OMIM
Stuve-Wiedemann Syndrome Tests OMIM
Succinic Semialdehyde Dehydrogenase Deficiency Tests GeneReview OMIM
Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Tests OMIM
Sudden Cardiac Death Multi-Gene Panels Tests
Sulfate Transporter-Related Osteochondrodysplasia Tests OMIM
Achondrogenesis Type 1B GeneReview OMIM
Atelosteogenesis Type II GeneReview OMIM
Diastrophic Dysplasia GeneReview OMIM
Multiple Epiphyseal Dysplasia, Recessive GeneReview OMIM
Sulfocysteinuria Tests OMIM
Supravalvular Aortic Stenosis Tests OMIM
SYCP3-Related Pregnancy Loss, Susceptibility to Tests OMIM
Syndactyly, Type II Tests OMIM
Syndromic Microphthalmia 2 Tests OMIM
Syndromic Microphthalmia 5 Tests OMIM
Syndromic Microphthalmia 6 Tests OMIM
Syndromic Microphthalmia 9 Tests OMIM
SYNE1-Related Autosomal Recessive Cerebellar Ataxia Tests GeneReview OMIM
SYNE1-Related Emery-Dreifuss Muscular Dystrophy Tests OMIM
SYNE2-Related Emery-Dreifuss Muscular Dystrophy Tests OMIM
SYP-Related X-Linked Mental Retardation Tests OMIM
Systemic Primary Carnitine Deficiency Tests GeneReview OMIM
TARDBP-Related Frontotemporal Dementia Tests OMIM
TARP Syndrome Tests OMIM
Tarsal-Carpal Coalition Syndrome Tests OMIM
TBX5-Related Holt-Oram Syndrome Tests GeneReview OMIM
TCIRG1-Related Autosomal Recessive Osteopetrosis Tests OMIM
Tetra-Amelia Syndrome Tests GeneReview OMIM
TFR2-Related Hereditary Hemochromatosis Tests GeneReview OMIM
Thanatophoric Dysplasia Tests GeneReview OMIM
Thanatophoric Dysplasia Type I OMIM
Thanatophoric Dysplasia Type II OMIM
Thiamine-Responsive Megaloblastic Anemia Syndrome Tests GeneReview OMIM
Thiopurine S-Methyltransferase Deficiency Tests OMIM
Thoracic Aortic Aneurysms and Aortic Dissections GeneReview OMIM
ACTA2-Related Thoracic Aortic Aneurysms and Aortic Dissections Tests OMIM
FBN1-Related Thoracic Aortic Aneurysms and Aortic Dissections Tests OMIM
MYH11-Related Thoracic Aortic Aneurysms and Aortic Dissections Tests OMIM
MYLK-Related Thoracic Aortic Aneurysms and Aortic Dissections Tests OMIM
SMAD3-Related Thoracic Aortic Aneurysms and Aortic Dissections Tests OMIM
TGFBR1-Related Thoracic Aortic Aneurysms and Aortic Dissections Tests OMIM
TGFBR2-Related Thoracic Aortic Aneurysms and Aortic Dissections Tests OMIM
THPO-Related Essential Thrombocythemia Tests OMIM
Thrombasthenia of Glanzmann and Naegeli, ITGA2B-Related Tests OMIM
Thrombasthenia of Glanzmann and Naegeli, ITGB3-Related Tests OMIM
Thrombocythemia 2 Tests OMIM
Thrombocytopenia 4 Tests OMIM
Thrombocytopenia Absent Radius Syndrome Tests GeneReview OMIM
Thrombophilia
Antithrombin-III Deficiency Tests OMIM
Factor V Cambridge Thrombophilia Tests OMIM
Factor V Leiden Thrombophilia Tests GeneReview OMIM
Factor V R2 Mutation Thrombophilia Tests OMIM
Factor VII Marburg I Variant Thrombophilia Tests OMIM
MTHFR Thermolabile Variant Tests OMIM
Protein C Deficiency Tests OMIM
Protein S Deficiency Tests OMIM
Prothrombin-Related Thrombophilia Tests GeneReview OMIM
Thrombophilia Multi-Gene Panels Tests
Thyroid Dyshormonogenesis 3 Tests OMIM
Thyroid Hormone Resistance Tests OMIM
Thyroid Hormonogenesis Defect I Tests OMIM
Tietz Syndrome Tests OMIM
Timothy Syndrome Tests GeneReview OMIM
Timothy Syndrome Type 1
Timothy Syndrome Type 2
TMEM127-Related Susceptibility to Pheochromocytoma Tests OMIM
TNFRSF11A- Related Autosomal Recessive Osteopetrosis Tests OMIM
TNFSF11-Related Autosomal Recessive Osteopetrosis Tests OMIM
TNNI3-Related Familial Restrictive Cardiomyopathy Tests OMIM
TNNT2-Related Familial Restrictive Cardiomyopathy Tests OMIM
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Tests OMIM
Tooth Agenesis, Selective, 1 Tests OMIM
Tooth Agenesis, Selective, 3 Tests OMIM
Tooth Agenesis, Selective, 4 Tests OMIM
Tooth Agenesis, Selective, X-Linked, 1 Tests OMIM
Tourette Syndrome Tests GeneReview OMIM
Townes-Brocks Syndrome Tests GeneReview OMIM
TP63-Related Disorders Tests OMIM
ADULT Syndrome OMIM
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate GeneReview OMIM
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome OMIM
Limb-Mammary Syndrome OMIM
Split-Hand/Foot Malformation, Type 4 OMIM
Transaldolase Deficiency Tests OMIM
Transcobalamin II Deficiency Tests OMIM
Transient Familial Neonatal Hyperbilirubinemia Tests OMIM
Treacher Collins Syndrome GeneReview OMIM
POLR1C-Related Treacher Collins Syndrome Tests OMIM
POLR1D-Related Treacher Collins Syndrome Tests OMIM
TCOF1-Related Treacher Collins Syndrome Tests OMIM
Trichohepatoenteric Syndrome 2 Tests OMIM
Trichorhinophalangeal Syndrome Type I Tests OMIM
Trichorhinophalangeal Syndrome Type II Tests OMIM
Trichorhinophalangeal Syndrome Type III Tests OMIM
Trichothiodystrophy, Nonphotosensitive 1 Tests OMIM
Trifunctional Protein Deficiency Tests OMIM
Trigonocephaly, Nonsyndromic Tests OMIM
Trimethylaminuria Tests GeneReview OMIM
Triosephosphate Isomerase Deficiency Tests OMIM
Triphalangeal Thumb-Polysyndactyly Syndrome Tests OMIM
Trismus-Pseudocamptodactyly Syndrome Tests OMIM
Troyer Syndrome Tests GeneReview OMIM
Tryptophan Hydroxylase Deficiency Tests OMIM
TSC1-Related Lymphangioleiomyomatosis Tests OMIM
Tuberous Sclerosis Complex GeneReview OMIM
Tuberous Sclerosis 1 Tests OMIM
Tuberous Sclerosis 2 Tests OMIM
Tumor Predisposition Syndrome Tests OMIM
TWIST1-Related Craniosynostosis Tests OMIM
Tylosis with Esophageal Cancer Tests OMIM
Type II Collagenopathies Tests OMIM
Achondrogenesis Type 2 OMIM
Avascular Necrosis of Femoral Head, Primary OMIM
COL2A1-Associated Stickler Syndrome OMIM
Kniest Dysplasia OMIM
Osteoarthritis with Mild Chondrodysplasia OMIM
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type OMIM
Spondyloepimetaphyseal Dysplasia, Strudwick Type OMIM
Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia Congenita OMIM
Spondyloperipheral Dysplasia OMIM
Tyrosine Hydroxylase Deficiency Tests GeneReview OMIM
Autosomal Recessive Infantile Parkinsonism
Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia OMIM
Tyrosinemia Type I Tests GeneReview OMIM
Tyrosinemia Type II Tests OMIM
Tyrosinemia Type III Tests OMIM