| | SSADH (succinic semialdehyde dehydrogenase deficiency) |
| | SSPE (subacute sclerosing panencephalitis) |
| | Sabinas brittle hair syndrome |
| | Sackey Sakati Aur syndrome |
| | Sacral defect anterior sacral meningocele |
| | Sacral hemangiomas multiple congenital abnormalities |
| | Sacral meningocele conotruncal heart defects |
| | Sacrococcygeal dysgenesis association |
| | Saito Kuba Tsuruta syndrome |
| | Salmonellosis (Salmonella infections) |
| | Sammartino Decreccio syndrome |
| | Sanderson Fraser syndrome |
| | Sandhaus Ben Ami syndrome |
| | Sandrow Sullivan Steel syndrome |
| | Santos Mateus Leal syndrome |
| | Saul Wilkes Stevenson syndrome |
| | Say Barber Hobbs syndrome |
| | Say Barber Miller syndrome |
| | Say Field Coldwell syndrome |
| | Scalp defects postaxial polydactyly |
| | Scalp ear nipple syndrome |
| | Schaap Taylor Baraitser syndrome |
| | Schaefer Stein Oshman syndrome |
| | Schamberg's disease pigmentation disorder |
| | Schinzel-Giedion midface retraction syndrome |
| | Schinzel-Giedion syndrome |
| | Schizophrenia mental retardation deafness retinitis |
| | Schizophrenia, genetic types |
| | Schlegelberger Grote syndrome |
| | Schmitt Gillenwater Kelly syndrome |
| | Schneckenbecken dysplasia |
| | Schofer Beetz Bohl syndrome |
| | Scholte Begeer Van Essen syndrome |
| | Schrander Stumpel Theunissen Hulsmans syndrome |
| | Schroer Hammer Mauldin syndrome |
| | Schweitzer Kemink Malcolm syndrome |
| | Sclerocornea, Syndactyly, ambiguous genitalia |
| | Sclerosing Lymphocytic Lobulitis |
| | Sclerosing bone dysplasia mental retardation |
| | Scoliosis with unilateral unsegmented bar |
| | Scott Bryant Graham syndrome |
| | Seckel like syndrome Majoor Krakauer type |
| | Seckel like syndrome type Buebel |
| | Secondary pulmonary hypertension |
| | Seemanova syndrome type 2 |
| | Segmental neurofibromatosis |
| | Segmental vertebral anomalies |
| | Seizures benign familial neonatal recessive form |
| | Seizures mental retardation hair dysplasia |
| | Selig Benacerraf Greene syndrome |
| | Semmerkrot Haraldsson Weenaes syndrome |
| | Sengers Hamel Otten syndrome |
| | Sensorineural hearing loss |
| | Sensory integration dysfunction |
| | Sensory neuropathy type 1 |
| | Sensory radicular neuropathy recessive form |
| | Septooptic dysplasia digital anomalies |
| | Seres Santamaria Arimany Muniz syndrome |
| | Serious digitalis intoxication |
| | Severe Infantile Axonal Neuropathy |
| | Severe acute respiratory syndrome |
| | Severe combined immunodeficiency |
| | Sharma Kapoor Ramji syndrome |
| | Short broad great toe macrocranium |
| | Short chain Acyl CoA dehydrogenase deficiency |
| | Short limb dwarf lethal Colavita Kozlowski type |
| | Short limb dwarf lethal Mcalister Crane type |
| | Short limb dwarf oedema iris coloboma |
| | Short limb dwarfism Al Gazali type |
| | Short limbs abnormal face congenital heart disease |
| | Short limbs subluxed knees cleft palate |
| | Short rib syndrome Beemer type |
| | Short rib-polydactyly syndrome |
| | Short rib-polydactyly syndrome, Beermer type |
| | Short rib-polydactyly syndrome, Majewski type |
| | Short rib-polydactyly syndrome, Saldino-Noonan type |
| | Short rib-polydactyly syndrome, Verma-Naumoff type |
| | Short ribs craniosynostosis polysyndactyly |
| | Short stature Brussels type |
| | Short stature Robin sequence cleft mandible hand anomalies clubfoot |
| | Short stature abnormal skin pigmentation mental retardation |
| | Short stature contractures hypotonia |
| | Short stature cranial hyperostosis hepatomegaly |
| | Short stature deafness neutrophil dysfunction |
| | Short stature dysmorphic face pelvic scapula dysplasia |
| | Short stature heart defect craniofacial anomalies |
| | Short stature hyperkaliemia acidosis |
| | Short stature locking fingers |
| | Short stature mental retardation eye anomalies |
| | Short stature mental retardation eye defects |
| | Short stature microcephaly heart defect |
| | Short stature microcephaly seizures deafness |
| | Short stature monodactylous ectrodactyly cleft palate |
| | Short stature prognathism short femoral necks |
| | Short stature talipes natal teeth |
| | Short stature valvular heart disease |
| | Short stature webbed neck heart disease |
| | Short stature wormian bones dextrocardia |
| | Short tarsus absence of lower eyelashes |
| | Shoulder and thorax deformity congenital heart disease |
| | Shoulder girdle defect mental retardation familial |
| | Shprintzen Golberg craniosynostosis |
| | Shwachman-Diamond syndrome |
| | Sideroblastic anemia, autosomal |
| | Siegler Brewer Carey syndrome |
| | Silengo Lerone Pelizzo syndrome |
| | Simosa Penchaszadeh Bustos syndrome |
| | Simpson-Golabi-Behmel syndrome |
| | Singh Chhaparwal Dhanda syndrome |
| | Single upper central incisor |
| | Singleton Merten syndrome |
| | Sino-auricular heart block |
| | Sinus node disease and myopia |
| | Situs inversus totalis with cystic dysplasia of kidneys and pancreas |
| | Situs inversus viscerum-cardiopathy |
| | Skeletal dysplasia San diego type |
| | Skeletal dysplasia brachydactyly |
| | Skeletal dysplasia epilepsy short stature |
| | Skeletal dysplasia orofacial anomalies |
| | Skeleto cardiac syndrome with thrombocytopenia |
| | Sketetal dysplasia coarse facies mental retardation |
| | Slavotinek Hurst syndrome |
| | Small non-cleaved cell lymphoma |
| | Smet Fabry Fryns syndrome |
| | Smith Fineman Myers syndrome |
| | Smith Martin Dodd syndrome |
| | Sommer Rathbun Battles syndrome |
| | Sommer Young Wee Frye syndrome |
| | Southwestern Athabaskan genetic diseases |
| | Sparse hair ptosis mental retardation |
| | Spastic angina with healthy coronary artery |
| | Spastic ataxia Charlevoix-Saguenay type |
| | Spastic diplegia infantile type |
| | Spastic paraparesis deafness |
| | Spastic paraparesis, infantile |
| | Spastic paraplegia epilepsy mental retardation |
| | Spastic paraplegia facial cutaneous lesions |
| | Spastic paraplegia familial autosomal recessive form |
| | Spastic paraplegia glaucoma precocious puberty |
| | Spastic paraplegia mental retardation corpus callosum |
| | Spastic paraplegia nephritis deafness |
| | Spastic paraplegia neuropathy poikiloderma |
| | Spastic paraplegia type 1, X-linked |
| | Spastic paraplegia type 2, X-linked |
| | Spastic paraplegia type 3, dominant |
| | Spastic paraplegia type 4, dominant |
| | Spastic paraplegia type 5A, recessive |
| | Spastic paraplegia type 5B, recessive |
| | Spastic paraplegia type 6, dominant |
| | Spastic paraplegia, familial |
| | Spastic paresis glaucoma mental retardation |
| | Spastic quadriplegia retinitis pigmentosa mental retardation |
| | Spasticity mental retardation |
| | Spasticity multiple exostoses |
| | Spatic paraparesis vitiligo premature graying |
| | Spellacy gibbs watts syndrome |
| | Spherophakia brachymorphia syndrome |
| | Spinal atrophy ophthalmoplegia pyramidal syndrome |
| | Spinal bulbar motor neuropathy |
| | Spinal bulbar muscular atrophy |
| | Spinal dysostosis type Anhalt |
| | Spinal muscular atrophy type 1 |
| | Spinal muscular atrophy type 2 |
| | Spinal muscular atrophy type 3 |
| | Spinal muscular atrophy type I with congenital bone fractures |
| | Spine rigid cardiomyopathy |
| | Spinocerebellar ataxia amyotrophy deafness |
| | Spinocerebellar ataxia dysmorphism |
| | Spinocerebellar atrophy type 3 |
| | Spinocerebellar degeneration corneal dystrophy |
| | Spinocerebellar degenerescence book type |
| | Splenic agenesis syndrome |
| | Splenogonadal fusion limb defects micrognatia |
| | Split hand deformity mandibulofacial dysostosis |
| | Split hand split foot X linked |
| | Split hand split foot malformation autosomal reces |
| | Split hand split foot mandibular hypoplasia |
| | Split hand split foot nystagmus |
| | Split hand urinary anomalies spina bifida |
| | Spondylo camptodactyly syndrome |
| | Spondylo costal dysostosis dandy walker |
| | Spondylocarpotarsal synostosis |
| | Spondylocostal dysplasia dominant |
| | Spondylodysplasia brachyolmia |
| | Spondyloenchondrodysplasia |
| | Spondyloepimetaphyseal dysplasia |
| | Spondyloepimetaphyseal dysplasia congenita, Iraqi |
| | Spondyloepimetaphyseal dysplasia congenita, Strudw |
| | Spondyloepimetaphyseal dysplasia joint laxity |
| | Spondyloepiphyseal dysplasia |
| | Spondyloepiphyseal dysplasia nephrotic syndrome |
| | Spondyloepiphyseal dysplasia tarda |
| | Spondyloepiphyseal dysplasia tarda progressive art |
| | Spondyloepiphyseal dysplasia, congenital type |
| | Spondylohypoplasia arthrogryposis popliteal pteryg |
| | Spondylometaphyseal dysplasia |
| | Spondylometaphyseal dysplasia, 'corner fracture' t |
| | Spondylometaphyseal dysplasia, Schmidt type |
| | Spondylometaphyseal dysplasia, Sedaghatian type |
| | Spondylometaphyseal dysplasia, X-linked |
| | Spondyloperipheral dysplasia short ulna |
| | Spongiform encephalopathy |
| | Spongy degeneration of central nervous system |
| | Spontaneous periodic hypothermia |
| | Spontaneous pneumothorax familial type |
| | Spranger schinzel yers syndrome |
| | Stalker chitayat syndrome |
| | Steatocystoma multiplex natal teeth |
| | Steele Richardson Olszewski syndrome, atypical |
| | Sterility due to immotile flagella |
| | Stern lubinsky durrie syndrome |
| | Sternal cyst vascular anomalies |
| | Sternal malformation vascular dysplasia associatio |
| | Steroid dehydrogenase deficiency dental anomalies |
| | Stickler syndrome, type 1 |
| | Stickler syndrome, type 2 |
| | Stickler syndrome, type 3 |
| | Stoelinga de koomen davis syndrome |
| | Stoll alembik dott syndrome |
| | Stoll alembik finck syndrome |
| | Stoll geraudel chauvin syndrome |
| | Stoll kieny dott syndrome |
| | Stoll levy francfort syndrome |
| | Storage pool platelet disease |
| | Stormorken sjaastad langslet syndrome |
| | Stratton garcia young syndrome |
| | Streeter's (Amniotic Bands) |
| | Striatonigral degeneration infantile |
| | Strumpell-lorrain disease |
| | Stuart factor deficiency, congenital |
| | Stuve Wiedemann dysplasia |
| | Subacute cerebellar degeneration |
| | Subacute sclerosing leucoencephalitis |
| | Subacute sclerosing panencephalitis |
| | Subaortic stenosis short stature syndrome |
| | Subcortical laminar heterotopia |
| | Subependymal nodular heterotopia |
| | Subvalvular aortic stenosis |
| | Succinate coenzyme Q reductase deficiency of |
| | Succinic acidemia lactic acidosis congenital |
| | Succinic semialdehyde dehydrogenase deficiency |
| | Succinyl-CoA acetoacetate transferase deficiency |
| | Sucrase-isomaltase deficiency |
| | Sudden Infant Death Dyndrome |
| | Sulfatidosis juvenile, Austin type |
| | Sulfite and xanthine oxydase deficiency |
| | Sulfite oxidase deficiency |
| | Super mesenteric artery syndrome |
| | Super mesozoic-dysentery complex |
| | Supranuclear ocular palsy |
| | Supraumbilical midabdominal raphe and facial cavernous hemangiomas |
| | Swyer James and McLeod Syndrome |
| | Symmetrical thalamic calcifications |
| | Symphalangism Cushing type |
| | Symphalangism brachydactyly |
| | Symphalangism brachydactyly craniosynostosis |
| | Symphalangism familial proximal |
| | Symphalangism short stature accessory testis |
| | Symphalangism with multiple anomalies of hands and feet |
| | Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch |
| | Syncamptodactyly scoliosis |
| | Syncopal paroxysmal tachycardia |
| | Syndactyly Cenani Lenz type |
| | Syndactyly between 4 and 5 |
| | Syndactyly cataract mental retardation |
| | Syndactyly ectodermal dysplasia cleft lip palate hand foot |
| | Syndactyly type 1 microcephaly mental retardation |
| | Syndactyly-polydactyly-ear lobe syndrome |
| | Syndrome of inappropraite antidiuretic hormone |
| | Syngnathia multiple anomalies |
| | Synostosis of talus and calcaneus short stature |
| | Synovial osteochondromatosis |
| | Synovitis acne pustulosis hyperostosis osteitis |
| | Synovitis granulomatous uveitis cranial neuropathi |
| | Syringocystadenoma papilliferum |
| | Syringomas natal teeth oligodontia |
| | Syringomelia hyperkeratosis |
| | Systemic arterio-veinous fistula |
| | Systemic carnitine deficiency |
| | Systemic lupus erythematosus |
| | Systemic necrotizing angeitis |
| |