Health Conditions - Genetics Home Reference: S-19 [RARE DISEASES LIBRARY]

Health Conditions - Genetics Home Reference

Health Conditions

Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.

• S-adenosylhomocysteine hydrolase deficiency, see hypermethioninemia
• saccharopine dehydrogenase deficiency disease, see hyperlysinemia
• saccharopinuria, see hyperlysinemia
• sacral agenesis, see caudal regression syndrome
• sacral defect with anterior meningocele, see caudal regression syndrome
• SADDAN
• SADDAN dysplasia, see SADDAN
• Saethre-Chotzen syndrome
• Saldino-Mainzer dysplasia, see Mainzer-Saldino syndrome
• Saldino-Mainzer syndrome, see Mainzer-Saldino syndrome
• Salih CMD, see Salih myopathy
• Salih congenital muscular dystrophy, see Salih myopathy
• Salih myopathy
• San Luis Valley syndrome, see recombinant 8 syndrome
• Sandhoff disease
• Sandhoff-Jatzkewitz-Pilz disease, see Sandhoff disease
• SANDO, see ataxia neuropathy spectrum
• Sanfilippo syndrome, see mucopolysaccharidosis type III
• Santavuori-Haltia disease, see infantile neuronal ceroid lipofuscinosis
• Sarcoma family syndrome of Li and Fraumeni, see Li-Fraumeni syndrome
• Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome, see Li-Fraumeni syndrome
• SAVI, see STING-associated vasculopathy with onset in infancy
• Say-Barber-Biesecker-Young-Simpson syndrome, see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome, see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• SBBYS variant of Ohdo syndrome, see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• SBBYSS, see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• SBCADD, see 2-methylbutyryl-CoA dehydrogenase deficiency
• SBLA syndrome, see Li-Fraumeni syndrome
• SBMA, see spinal and bulbar muscular atrophy
• SC phocomelia syndrome, see Roberts syndrome
• SC pseudothalidomide syndrome, see Roberts syndrome
• SC syndrome, see Roberts syndrome
• SCA1, see spinocerebellar ataxia type 1
• SCA2, see spinocerebellar ataxia type 2
• SCA3, see spinocerebellar ataxia type 3
• SCA36, see spinocerebellar ataxia type 36
• SCA6, see spinocerebellar ataxia type 6
• SCAD deficiency, see short-chain acyl-CoA dehydrogenase deficiency
• SCADH deficiency, see short-chain acyl-CoA dehydrogenase deficiency
• SCAE, see myoclonic epilepsy myopathy sensory ataxia
• scalp defect congenital, see nonsyndromic aplasia cutis congenita
• SCAN2, see ataxia with oculomotor apraxia
• SCAR1, see ataxia with oculomotor apraxia
• SCCHN, see head and neck squamous cell carcinoma
• SCD, see sickle cell disease
• SCDO, see spondylocostal dysostosis
• SCHAD deficiency, see 3-hydroxyacyl-CoA dehydrogenase deficiency
• Scheie syndrome, see mucopolysaccharidosis type I
• Schilder disease, see X-linked adrenoleukodystrophy
• Schilder-Addison Complex, see X-linked adrenoleukodystrophy
• Schimke immuno-osseous dysplasia
• Schimke immunoosseous dysplasia, see Schimke immuno-osseous dysplasia
• Schindler disease
• Schinzel Giedion syndrome, see Schinzel-Giedion syndrome
• Schinzel-Giedion midface retraction syndrome, see Schinzel-Giedion syndrome
• Schinzel-Giedion syndrome
• schizophrenia
• schwannoma, acoustic, bilateral, see neurofibromatosis type 2
• Schwartz-Jampel syndrome
• Schwartz-Jampel syndrome, type 1, see Schwartz-Jampel syndrome
• Schwartz-Jampel type 2 syndrome, see Stüve-Wiedemann syndrome
• Schwartz-Jampel-Aberfeld syndrome, see Schwartz-Jampel syndrome
• SCID due to ADA deficiency, see adenosine deaminase deficiency
• SCIDX1, see X-linked severe combined immunodeficiency
• sclerosing cholangitis, see primary sclerosing cholangitis
• sclerosis tuberosa, see tuberous sclerosis complex
• sclerosis; brain, Pelizaeus-Merzbacher, see Pelizaeus-Merzbacher disease
• sclerosteosis, see SOST-related sclerosing bone dysplasia
• SCOT deficiency, see succinyl-CoA:3-ketoacid CoA transferase deficiency
• SCS, see Saethre-Chotzen syndrome
• SCT, see spondylocarpotarsal synostosis syndrome
• SCT syndrome, see spondylocarpotarsal synostosis syndrome
• SD/THE, see trichohepatoenteric syndrome
• SDAT, see Alzheimer disease
• SDS, see Shwachman-Diamond syndrome
• SDS, see multiple system atrophy
• SDYS, see Simpson-Golabi-Behmel syndrome
• sebocystomatosis, see steatocystoma multiplex
• secreto-inhibitor-xerodermostenosis, see Sjögren syndrome
• SED congenita, see spondyloepiphyseal dysplasia congenita
• SED Strudwick, see spondyloepimetaphyseal dysplasia, Strudwick type
• SED tarda, see X-linked spondyloepiphyseal dysplasia tarda
• SED with luxations, CHST3 type, see CHST3-related skeletal dysplasia
• SED, congenital type, see spondyloepiphyseal dysplasia congenita
• SED, Omani type, see CHST3-related skeletal dysplasia
• SEDc, see spondyloepiphyseal dysplasia congenita
• Sedlackova syndrome, see 22q11.2 deletion syndrome
• Seemanova syndrome, see Nijmegen breakage syndrome
• Segawa syndrome, autosomal recessive, see tyrosine hydroxylase deficiency
• Seip syndrome, see congenital generalized lipodystrophy
• Seitelberger disease, see infantile neuroaxonal dystrophy
• Seitelberger's disease, see infantile neuroaxonal dystrophy
• selective T-cell defect, see ZAP70-related severe combined immunodeficiency
• SEMD, Strudwick type, see spondyloepimetaphyseal dysplasia, Strudwick type
• Senior-Loken syndrome, see Senior-Løken syndrome
• Senior-Løken syndrome
• Sensenbrenner syndrome, see cranioectodermal dysplasia
• sensorineural deafness and male infertility
• sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome, see Townes-Brocks Syndrome
• sensory ataxia neuropathy dysarthria and ophthalmoplegia, see ataxia neuropathy spectrum
• sepiapterin reductase deficiency
• septo-optic dysplasia
• septooptic dysplasia, see septo-optic dysplasia
• SERAC1 defect, see MEGDEL syndrome
• serpentine fibula-polycystic kidney syndrome, see Hajdu-Cheney syndrome
• serum prothrombin conversion accelerator deficiency, see factor VII deficiency
• Severe achondroplasia with developmental delay and acanthosis nigricans, see SADDAN
• severe combined immunodeficiency due to ADA deficiency, see adenosine deaminase deficiency
• severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency, see adenosine deaminase deficiency
• severe congenital encephalopathy due to MECP2 mutation, see MECP2-related severe neonatal encephalopathy
• severe congenital neutropenia
• severe GH insensitivity, see Laron syndrome
• severe infantile axonal neuropathy with respiratory failure, see spinal muscular atrophy with respiratory distress type 1
• severe infantile genetic neutropenia, see severe congenital neutropenia
• severe neonatal encephalopathy due to MECP2 mutations, see MECP2-related severe neonatal encephalopathy
• severe susceptibility to EBV infection, see X-linked lymphoproliferative disease
• severe susceptibility to infectious mononucleosis, see X-linked lymphoproliferative disease
• Sezary erythroderma, see Sézary syndrome
• Sezary syndrome, see Sézary syndrome
• Sezary's lymphoma, see Sézary syndrome
• SFN, see small fiber neuropathy
• SFNP, see small fiber neuropathy
• SFPKS, see Hajdu-Cheney syndrome
• SGBS, see Simpson-Golabi-Behmel syndrome
• SGBS1, see Simpson-Golabi-Behmel syndrome
• Shabbir syndrome, see laryngo-onycho-cutaneous syndrome
• Sheldon-Hall syndrome
• SHM, see sporadic hemiplegic migraine
• short QT syndrome
• short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies, see KBG syndrome
• short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
• short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome, see KBG syndrome
• short stature-hyperextensibility-Rieger anomaly-teething delay, see short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
• short stature-onychodysplasia, see Coffin-Siris syndrome
• SHORT syndrome, see short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
• short-chain acyl-CoA dehydrogenase deficiency
• short-chain acyl-coenzyme A dehydrogenase deficiency, see short-chain acyl-CoA dehydrogenase deficiency
• short-rib thoracic dysplasia 9, see Mainzer-Saldino syndrome
• short/branched-chain acyl-CoA dehydrogenase deficiency, see 2-methylbutyryl-CoA dehydrogenase deficiency
• Shoulder Girdle Neuropathy, see hereditary neuralgic amyotrophy
• Shprintzen syndrome, see 22q11.2 deletion syndrome
• Shprintzen-Goldberg craniosynostosis syndrome, see Shprintzen-Goldberg syndrome
• Shprintzen-Goldberg syndrome
• SHS, see Sheldon-Hall syndrome
• Shwachman syndrome, see Shwachman-Diamond syndrome
• Shwachman-Bodian syndrome, see Shwachman-Diamond syndrome
• Shwachman-Bodian-Diamond syndrome, see Shwachman-Diamond syndrome
• Shwachman-Diamond syndrome
• Shwachman-Diamond-Oski Syndrome, see Shwachman-Diamond syndrome
• Shy-Drager syndrome, see multiple system atrophy
• Shy-Magee Syndrome, see central core disease
• SI deficiency, see congenital sucrase-isomaltase deficiency
• sialic acid storage disease
• sialidosis
• sialolipidosis, see mucolipidosis type IV
• sialuria
• sialuria, Finnish type, see sialic acid storage disease
• Sialuria, French type, see sialuria
• SIANRF, see spinal muscular atrophy with respiratory distress type 1
• sicca syndrome, see Sjögren syndrome
• sick sinus syndrome
• sickle cell disease
• Sickle cell disorders, see sickle cell disease
• Sickling disorder due to hemoglobin S, see sickle cell disease
• SIDDT, see sudden infant death with dysgenesis of the testes syndrome
• Siderius X-linked mental retardation syndrome, see X-linked intellectual disability, Siderius type
• Siderius-Hamel syndrome, see X-linked intellectual disability, Siderius type
• Siegal-Cattan-Mamou disease, see familial Mediterranean fever
• Siemerling-Creutzfeldt disease, see X-linked adrenoleukodystrophy
• Silver spastic paraplegia syndrome, see Silver syndrome
• Silver syndrome
• Silver-Russell dwarfism, see Russell-Silver syndrome
• Silver-Russell syndrome, see Russell-Silver syndrome
• Simpson dysplasia syndrome, see Simpson-Golabi-Behmel syndrome
• Simpson syndrome, see Simpson-Golabi-Behmel syndrome
• Simpson-Golabi-Behmel syndrome
• sinus node disease, see sick sinus syndrome
• sinus node dysfunction, see sick sinus syndrome
• SIOD, see Schimke immuno-osseous dysplasia
• sitosterolaemia, see sitosterolemia
• sitosterolemia
• situs ambiguus, see heterotaxy syndrome
• situs ambiguus viscerum, see heterotaxy syndrome
• SJA syndrome, see Schwartz-Jampel syndrome
• Sjogren's syndrome, see Sjögren syndrome
• Sjogren-Gougerot syndrome, see Sjögren syndrome
• Sjogren-Larsson syndrome, see Sjögren-Larsson syndrome
• SJS, see Schwartz-Jampel syndrome
• SJS1, see Schwartz-Jampel syndrome
• SJS2, see Stüve-Wiedemann syndrome
• Sjögren syndrome
• Sjögren-Larsson syndrome
• Skeleton-skin-brain syndrome, see SADDAN
• SLC29A3 disorder, see histiocytosis-lymphadenopathy plus syndrome
• SLC29A3 spectrum disorder, see histiocytosis-lymphadenopathy plus syndrome
• SLC4A1-associated distal renal tubular acidosis
• SLC6A8 deficiency, see X-linked creatine deficiency
• SLC6A8-related creatine transporter deficiency, see X-linked creatine deficiency
• SLE, see systemic lupus erythematosus
• SLO syndrome, see Smith-Lemli-Opitz syndrome
• SLOS, see Smith-Lemli-Opitz syndrome
• SLS, see Sjögren-Larsson syndrome
• Sly Syndrome, see mucopolysaccharidosis type VII
• SMA, see spinal muscular atrophy
• SMA-PME, see spinal muscular atrophy with progressive myoclonic epilepsy
• small fiber neuropathy
• small nerve fiber neuropathy, see small fiber neuropathy
• SMAPME, see spinal muscular atrophy with progressive myoclonic epilepsy
• SMARD1, see spinal muscular atrophy with respiratory distress type 1
• SMED, Strudwick type, see spondyloepimetaphyseal dysplasia, Strudwick type
• SMED, type I, see spondyloepimetaphyseal dysplasia, Strudwick type
• Smith-Lemli-Opitz syndrome
• Smith-Magenis syndrome
• SMS, see Smith-Magenis syndrome
• SND, see sick sinus syndrome
• Sneddon syndrome, see adenosine deaminase 2 deficiency
• Snyder-Robinson syndrome
• Snyder-Robinson X-linked mental retardation syndrome, see Snyder-Robinson syndrome
• SOD, see septo-optic dysplasia
• sodium channel myotonia, see potassium-aggravated myotonia
• Sohar-Crisponi syndrome, see cold-induced sweating syndrome
• Somerville-Van der Aa syndrome, see 7q11.23 duplication syndrome
• SOST sclerosing bone dysplasia, see SOST-related sclerosing bone dysplasia
• SOST-related sclerosing bone dysplasia
• Sotos sequence, see Sotos syndrome
• Sotos syndrome
• Sotos' syndrome, see Sotos syndrome
• SOX2 anophthalmia syndrome
• SOX2-related eye disorders, see SOX2 anophthalmia syndrome
• spasm of eyelids, see benign essential blepharospasm
• spastic ataxia of Charlevoix-Saguenay, see autosomal recessive spastic ataxia of Charlevoix-Saguenay
• spastic ataxia, Charlevoix-Saguenay type, see autosomal recessive spastic ataxia of Charlevoix-Saguenay
• spastic paraparesis, childhood-onset, with distal muscle wasting, see Troyer syndrome
• spastic paraplegia 1, see L1 syndrome
• spastic paraplegia 17, see Silver syndrome
• spastic paraplegia 2, see spastic paraplegia type 2
• spastic paraplegia 20, autosomal recessive, see Troyer syndrome
• spastic paraplegia 3, see spastic paraplegia type 3A
• spastic paraplegia 31, see spastic paraplegia type 31
• spastic paraplegia 35, see fatty acid hydroxylase-associated neurodegeneration
• spastic paraplegia 3A, see spastic paraplegia type 3A
• spastic paraplegia 4, see spastic paraplegia type 4
• spastic paraplegia 7, see spastic paraplegia type 7
• spastic paraplegia 8, see spastic paraplegia type 8
• spastic paraplegia and retinal degeneration, see spastic paraplegia type 15
• spastic paraplegia type 11
• spastic paraplegia type 15
• spastic paraplegia type 2
• spastic paraplegia type 31
• spastic paraplegia type 3A
• spastic paraplegia type 4
• spastic paraplegia type 7
• spastic paraplegia type 8
• spastic paraplegia with amyotrophy of hands and feet, see Silver syndrome
• spastic paraplegia, autosomal recessive, Troyer type, see Troyer syndrome
• SPD, see spondyloperipheral dysplasia
• speech and language disorder with orofacial dyspraxia, see FOXP2-related speech and language disorder
• speech-language disorder 1, see FOXP2-related speech and language disorder
• SPENCDI, see spondyloenchondrodysplasia with immune dysregulation
• spermatogenic failure 5, see macrozoospermia
• spermatogenic failure 9, see globozoospermia
• spermatogenic failure, Y-linked, see Y chromosome infertility
• spermine synthase deficiency, see Snyder-Robinson syndrome
• SPG 8, see spastic paraplegia type 8
• SPG1, see L1 syndrome
• SPG11-related hereditary spastic paraplegia with thin corpus callosum, see spastic paraplegia type 11
• SPG15, see spastic paraplegia type 15
• SPG17, see Silver syndrome
• SPG20, see Troyer syndrome
• SPG31, see spastic paraplegia type 31
• SPG3A, see spastic paraplegia type 3A
• SPG4, see spastic paraplegia type 4
• spherocytic anemia, see hereditary spherocytosis
• spherocytosis, type 1, see hereditary spherocytosis
• spherophakia-brachymorphia syndrome, see Weill-Marchesani syndrome
• Sphingolipidosis, Tay-Sachs, see Tay-Sachs disease
• sphingomyelin lipidosis, see Niemann-Pick disease
• sphingomyelin/cholesterol lipidosis, see Niemann-Pick disease
• sphingomyelinase deficiency, see Niemann-Pick disease
• Spiegler-Brooke syndrome, see Brooke-Spiegler syndrome
• Spielmeyer-Vogt disease, see juvenile Batten disease
• spina bifida
• spinal amyotrophy, see spinal muscular atrophy
• spinal and bulbar muscular atrophy
• spinal dysraphism, see spina bifida
• spinal muscular atrophy
• spinal muscular atrophy with progressive myoclonic epilepsy
• spinal muscular atrophy with respiratory distress, see spinal muscular atrophy with respiratory distress type 1
• spinal muscular atrophy with respiratory distress type 1
• spinal muscular atrophy, distal type V, see distal hereditary motor neuropathy, type V
• spinal muscular atrophy, distal, with upper limb predominance, see distal hereditary motor neuropathy, type V
• spinocerebellar ataxia 36, see spinocerebellar ataxia type 36
• spinocerebellar ataxia type 1
• spinocerebellar ataxia type 2
• spinocerebellar ataxia type 3
• spinocerebellar ataxia type 36
• spinocerebellar ataxia type 6
• spinocerebellar ataxia with axonal neuropathy type 2, see ataxia with oculomotor apraxia
• spinocerebellar ataxia with epilepsy, see myoclonic epilepsy myopathy sensory ataxia
• spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy, see Boucher-Neuhäuser syndrome
• spinocerebellar ataxia, recessive, non-Friedreich type 1, see ataxia with oculomotor apraxia
• spinocerebellar atrophy I, see spinocerebellar ataxia type 1
• spondylarthritis ankylopoietica, see ankylosing spondylitis
• spondylitis ankylopoietica, see ankylosing spondylitis
• spondylitis, ankylosing, see ankylosing spondylitis
• spondyloarthritis ankylopoietica, see ankylosing spondylitis
• spondyloarthropathy with short third and fourth toes, see Czech dysplasia
• spondylocarpotarsal syndrome, see spondylocarpotarsal synostosis syndrome
• spondylocarpotarsal synostosis syndrome
• spondylocostal dysostosis
• spondyloenchondrodysplasia with immune dysregulation
• spondyloepimetaphyseal dysplasia, Strudwick type
• Spondyloepiphyseal Dysplasia, see X-linked spondyloepiphyseal dysplasia tarda
• spondyloepiphyseal dysplasia congenita
• spondyloepiphyseal dysplasia tarda with progressive arthropathy, see progressive pseudorheumatoid dysplasia
• spondyloepiphyseal dysplasia with congenital joint dislocations, see CHST3-related skeletal dysplasia
• Spondyloepiphyseal dysplasia, congenital type, see spondyloepiphyseal dysplasia congenita
• spondyloepiphyseal dysplasia, Omani type, see CHST3-related skeletal dysplasia
• spondylohumerofemoral hypoplasia, see atelosteogenesis type 1
• Spondylometaepiphyseal dysplasia congenita, Strudwick type, see spondyloepimetaphyseal dysplasia, Strudwick type
• Spondylometaphyseal dysplasia (SMD), see spondyloepimetaphyseal dysplasia, Strudwick type
• spondyloperipheral dysplasia
• spondyloperipheral dysplasia with short ulna, see spondyloperipheral dysplasia
• spondylothoracic dysostosis
• spontaneous occlusion of the Circle of Willis, see moyamoya disease
• spontaneous pneumothorax, see primary spontaneous pneumothorax
• sporadic hemiplegic migraine
• sporadic olivopontocerebellar atrophy, see multiple system atrophy
• sporadic primary pulmonary hypertension, see pulmonary arterial hypertension
• SPR deficiency, see sepiapterin reductase deficiency
• sprue, see celiac disease
• SQTS, see short QT syndrome
• squamous cell carcinoma of the head and neck, see head and neck squamous cell carcinoma
• SRS, see Snyder-Robinson syndrome
• SRS, see Russell-Silver syndrome
• SRTD9, see Mainzer-Saldino syndrome
• SSADH deficiency, see succinic semialdehyde dehydrogenase deficiency
• SSB syndrome, see SADDAN
• SSS, see sick sinus syndrome
• stale fish syndrome, see trimethylaminuria
• Stargardt disease, see Stargardt macular degeneration
• Stargardt macular degeneration
• startle syndrome, see hereditary hyperekplexia
• STAT3 deficiency, see autosomal dominant hyper-IgE syndrome
• STAT3-deficient hyper IgE syndrome, see autosomal dominant hyper-IgE syndrome
• STD, see spondylothoracic dysostosis
• steatocystoma multiplex
• steatosis, see non-alcoholic fatty liver disease
• Steele-Richardson-Olszewski syndrome, see progressive supranuclear palsy
• Steely Hair Syndrome, see Menkes syndrome
• stem cell leukemia/lymphoma, see 8p11 myeloproliferative syndrome
• stenosis, aortic supravalvular, see supravalvular aortic stenosis
• stenosis, supravalvular aortic, see supravalvular aortic stenosis
• steroid 11 beta hydroxylase deficiency, see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
• steroid 18-hydroxylase deficiency, see corticosterone methyloxidase deficiency
• steroid 18-oxidase deficiency, see corticosterone methyloxidase deficiency
• Steroid 5-alpha-reductase deficiency, see 5-alpha reductase deficiency
• Stevens-Johnson syndrome, see Stevens-Johnson syndrome/toxic epidermal necrolysis
• Stevens-Johnson syndrome toxic epidermal necrolysis spectrum, see Stevens-Johnson syndrome/toxic epidermal necrolysis
• Stevens-Johnson syndrome/toxic epidermal necrolysis
• STGD, see Stargardt macular degeneration
• STHE, see hereditary hyperekplexia
• Stickler dysplasia, see Stickler syndrome
• Stickler syndrome
• stiff-baby syndrome, see hereditary hyperekplexia
• Stilling-Turk-Duane syndrome, see isolated Duane retraction syndrome
• STING-associated vasculopathy with onset in infancy
• STING-associated vasculopathy, infantile onset, see STING-associated vasculopathy with onset in infancy
• Stormorken syndrome
• Stormorken-Sjaastad-Langslet syndrome, see Stormorken syndrome
• straight-chain acyl-CoA oxidase deficiency, see peroxisomal acyl-CoA oxidase deficiency
• striopallidodentate calcinosis, see familial idiopathic basal ganglia calcification
• Strudwick syndrome, see spondyloepimetaphyseal dysplasia, Strudwick type
• Stuart-Prower factor deficiency, see factor X deficiency
• Stuve-Wiedemann dysplasia, see Stüve-Wiedemann syndrome
• Stuve-Wiedemann syndrome, see Stüve-Wiedemann syndrome
• Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome, see Stüve-Wiedemann syndrome
• STWS, see Stüve-Wiedemann syndrome
• Stüve-Wiedemann syndrome
• subacute necrotizing encephalomyelopathy, see Leigh syndrome
• subluxation of lens, see isolated ectopia lentis
• submandibular, ocular, and rectal pain with flushing, see paroxysmal extreme pain disorder
• succinate-CoA ligase deficiency
• succinate-coenzyme A ligase deficiency, see succinate-CoA ligase deficiency
• succinic semialdehyde dehydrogenase deficiency
• succinyl-CoA 3-oxoacid transferase deficiency, see succinyl-CoA:3-ketoacid CoA transferase deficiency
• succinyl-CoA:3-ketoacid CoA transferase deficiency
• succinyl-CoA:3-oxoacid CoA transferase deficiency, see succinyl-CoA:3-ketoacid CoA transferase deficiency
• succinyl-CoA:acetoacetate transferase deficiency, see succinyl-CoA:3-ketoacid CoA transferase deficiency
• succinylcholine sensitivity, see pseudocholinesterase deficiency
• succinylpurinemic autism, see adenylosuccinate lyase deficiency
• sucrase-isomaltase deficiency, see congenital sucrase-isomaltase deficiency
• sudden infant death with dysgenesis of the testes syndrome
• sudden unexpected nocturnal death syndrome, see Brugada syndrome
• sudden unexplained death syndrome, see Brugada syndrome
• SUDS, see Brugada syndrome
• sulfatide lipidosis, see metachromatic leukodystrophy
• sulfatidosis, see metachromatic leukodystrophy
• SUNDS, see Brugada syndrome
• supernumerary der(22) syndrome, see Emanuel syndrome
• supernumerary der(22)t(11;22) syndrome, see Emanuel syndrome
• supernumerary derivative 22 chromosome syndrome, see Emanuel syndrome
• suppurative hidradenitides, see hidradenitis suppurativa
• suppurative hidradenitis, see hidradenitis suppurativa
• supranuclear palsy, progressive, see progressive supranuclear palsy
• supravalvar aortic stenosis syndrome, see Williams syndrome
• supravalvular aortic stenosis
• supravalvular stenosis, aortic, see supravalvular aortic stenosis
• Surdo-cardiac syndrome, see Jervell and Lange-Nielsen syndrome
• surfactant dysfunction
• surfactant metabolism deficiency, see surfactant dysfunction
• susceptibility to acute necrotizing encephalopathy, see acute necrotizing encephalopathy type 1
• susceptibility to infection-induced acute encephalopathy, see acute necrotizing encephalopathy type 1
• susceptibility to infection-induced acute encephalopathy 3, see acute necrotizing encephalopathy type 1
• Sutherland-Haan syndrome, see Renpenning syndrome
• suxamethonium sensitivity, see pseudocholinesterase deficiency
• SVAS, see supravalvular aortic stenosis
• Swiss cheese cartilage dysplasia, see Kniest dysplasia
• Swiss type amyloid polyneuropathy, see transthyretin amyloidosis
• SWS, see Stüve-Wiedemann syndrome
• Swyer syndrome
• symmetric parietal foramina, see enlarged parietal foramina
• syndactyly-anophthalmos syndrome, see ophthalmo-acromelic syndrome
• syndromic diarrhea, see trichohepatoenteric syndrome
• syndromic microphthalmia 3, see SOX2 anophthalmia syndrome
• syndromic microphthalmia-7, see microphthalmia with linear skin defects syndrome
• syndromic X-linked mental retardation, Siderius type, see X-linked intellectual disability, Siderius type
• SYNGAP1-related intellectual disability
• systemic carnitine deficiency, see primary carnitine deficiency
• systemic hemosiderosis due to aceruloplasminemia, see aceruloplasminemia
• Systemic hyalinosis, see juvenile hyaline fibromatosis
• systemic juvenile rheumatoid arthritis, see juvenile idiopathic arthritis
• systemic lupus erythematosus
• systemic scleroderma
• systemic sclerosis, see systemic scleroderma