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Saal Bulas Syndrome (Ectrodactyly with Diaphragmatic Hernia and Corpus Callosum Agenesis) Sabinas Brittle Hair Syndrome (Brittle Hair Mental Deficit) Sackey Sakati Aur Syndrome (Pancytopenia with Multiple Congenital Anomalies) Sacral Agenesis Saethre Chotzen Syndrome Sagittal Synostosis (Craniostenosis, Craniosynostosis, Dolicocephaly, Scaphocephaly, Sagittal Craniostenosis, Sagittal Craniosynostosis) Sakati Nyhan Syndrome Salamon Syndrome (Woolly Hair with Hypotrichosis, Everted Lower Lip and Outstanding Ears) Saldino Noonan McCreanor Syndrome Sammartino Decreccio Syndrome (Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation) Sandhoff Disease (Type I is from birth, but some of these links include info on Type II and/or Adult Onset as well) Sanfilippo Disease/Syndrome (Mucopolysaccharidosis, Type III) Sanjad Sakati Syndrome Santavuori Haltia Disease Sarcosinemia (Deficiency of Sarcosine Dehydrogenase Complex, Hypersarcosinemia, Sard Deficiency) Say Barber Hobbs Syndrome (Cleft Palate, Large Ears, Small Head) SC Phocomelia Syndrome Scalp Defects and Postaxial Polydactyly Scaphocephaly Scapuloilioperoneal Atrophy with Cardiopathy Schaefer Stein Oshman Syndrome Schereshevkii Turner Syndrome Scheie Syndrome Schimmelpenning Feuerstein Mims Syndrome (Organoid Nevus Phakomatosis) Schinzel Acrocallosal Syndrome Schinzel Phocomelia Syndrome Schinzel Syndrome (Ulnar-Mammary Syndrome [of Pallister], Pallister Syndrome) Schizencephaly Schrander Stumpel Theunissen Hulsmans Syndrome (Vitiligo Psychomotor Retardation Cleft Palate Facial Dysmorphism) Schweitzer Kemink Malcolm Syndrome (Conductive Deafness Micrognathia) Sclerocornea Scleroderma Sclerosteosis (Cortical Hyperostosis with Syndactyly) Scott Bryant Graham Syndrome (Craniodigital Syndrome with Mental Retardation) Sebaceus Nevus Syndrome Seckel Type Dwarfism Secondary Adhalin Deficiency Segawa Syndrome Seizures Senior Syndrome Sensenbrenner Syndrome Sensory and Autonomic Neuropathy Sensory Radicular Neuropathy Septo Optic Dysplasia (Optic-Nerve Hypoplasia) Seres Santamaria Arimany Muniz Syndrome Serpentine Fibula-Polycystic Kidney Syndrome Severe Combined Immunodeficiency Disease (SCID) Shimpo('s) Syndrome Schinzel Syndrome Shokeir Syndrome (Alopecia Epilepsy Pyorrhea Mental Subnormality) Short-Bowel Syndrome Short Rib-Polydactyly Syndrome (Polydactyly with Neonatal Chondrodystrophy; Short Rib-Polydactyly Syndrome, Majewski Type; Short Rib-Polydactyly Syndrome, Saldino-Noonan Type; Short Rib-Polydactyly Syndrome, Verma-Naumoff Type; Saldino-Noonan-McCreanor Syndrome) Shprintzen (VCF) Syndrome Shwachman-Diamond Syndrome Sialidosis (Angiokeratoma Corporis Diffusum) Sicca Syndrome Sick Sinus Syndrome Sickle Cell Anemia/Disease Sideroblastic Anemia Sidransky Feinstein Goodman Syndrome Siemens Syndrome (Keratosis Follicularis with Spinula Decalvans) Siemerling-Creutzfeldt syndrome Silengo Lerone Pelizzo Syndrome Sillence Syndrome (Brachydactyly-Symphalangism Syndrome) Silver (Russell) Syndrome Silvery Hair Syndrome Simosa Penchaszadeh Bustos Syndrome (Blepharophimosis Telecanthus Microstomia, Flat Face Microstomia Ear Anomaly) Simpson Golabi Behmel Syndrome Single Ventricle Sinus Node Disease Sinus Rhythm, Congenital Absence of Sinusitis-Infertility Syndrome Sirenomelia (Mermaid Malformation) Situs Inversus Sjogren Syndrome (Sicca Syndrome) Sjogren-Larsson Syndrome (Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia; Fatty Alcohol:NAD+ Oxidoreductase (FAO) Deficiency; Fatty Aldehyde Dehydrogenase (FALDH) Deficiency) Sjogren-Larsson-Like Syndrome Skeletal Dysplasia Slavotinek Hurst Syndrome (Cataract Skeletal Anomalies) Sly Syndrome (Beta-Glucuronidase Deficiency, Mucopolysaccharidosis Type VII) Smith Lemli Opitz (SLO) Syndrome Smith Magenis Syndrome Smith-McCort Dwarfism Snyder Robinson Syndrome (X-Linked Mental Retardation, Snyder Robinson Type) Soluble Oxidase Component II [SOC2], Deficiency of Sommer Rathbun Battles Syndrome (Aniridia Renal Agenesis Psychomotor Retardation) Sommer Young-Wee Frye Syndrome (Craniofacial Deafness Hand Syndrome) Sondheimer Syndrome (Coarse Face Hypotonia Constipation) Sorsby Disease Sosby Syndrome (Coloboma of Macula with Type B Brachydactyly) Soto('s) Syndrome (Cerebral Gigantism) Souques Charcot Syndrome Spastic Paraplegia Spastic Paraperisis Spellacy Gibbs Watts Syndrome Spherocytosis Spherophakia Brachymorphia Syndrome Sphingomyelinosis Spielmeyer Vogt Disease Spina Bifida Spinal Muscular Atrophy Spinocerebellar Ataxia Splenic Agenesis Syndrome Split Hand Split Foot Mandibular Hypoplasia Spondyloarthritis Spondylocostal Dysplasia/Dysostosis Spondyloendochromatosis Spondyloepiphyseal Dysplasia/Dystosis Spondylohumerofemoral Hypoplasia Spondylometaphyseal Dysplasia Sprengel('s) Deformity (High Scapula) Spunglass Hair Stanescu Maroteaux Syndrome Stargardt('s) Disease (Familial) Startle Disease Steinert Disease Stelencephaly Syndrome Sterility Stern Lubinsky Durrie Syndrome (Corneodermatoosseous [CDO] Syndrome) Stickler Syndrome (Arthroophtalmopathy Hereditary Progressive) Stiff Baby Syndrome (Hyperekplexia, Kok Disease, [Familial] Startle Disease) Stiff Man Syndrome Stilling-Turk-Duane Syndrome Stoll Alembik Finck Syndrome (Arthrogryposis Ectodermal Dysplasia Other Anomalies) Stoll Kieny Dott Syndrome (Ventricular Extrasystoles Perodactyly Robin Sequence) Strabismus Stratton Garcia Young Syndrome (Brachydactyly with Mesomelia, Mental Retardation, and Heart Defects) Streeter Anomaly Striopallidodentate (SPD) Calcinosis Strudwick Syndrome (Dappled Metaphysis Syndrome; Spondyloepimetaphyseal Dysplasia, Strudwick Type) Sturge Weber (Dimitri) Syndrome (Encephalo-Facial Angiomatosis) Subglottic Stenosis Sudden Infant Death Syndrome (SIDS) Sujansky Leonard Syndrome (VACTERL Association with Hydrocephalus) Sulfatase Deficiency Sulfatide Lipidosis Sulfite Oxidase Deficiency Summitt Symdrome Suprabulbar Paresis Susceptibility to Infectious Mononucleosis Sutherland Haan X-Linked Mental Retardation Syndrome (Mental Retardation, X-Linked, Syndromic 3; Mental Retardation, X-Linked, with Spastic Diplegia) Sweaty Foot Syndrome Swiss Cheese Cartilage Syndrome Swyer Syndrome (Gonadal Dysgenesis, XY Female Type) Symphalangism-Brachydactyly Syndrome Syndactyly Syndrome of Schenthauer Marie Sainton Synostosis of Talus and Calcaneus with Short Stature Synpolydactyly Syringomyelia Systemic Cystic Angiomatosis and Seip Syndrome Systemic Lupus Erythematosus


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