Genetic Conditions: S

Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.

• 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
• SAD, see Seasonal affective disorder
• SADDAN
• SADDAN dysplasia, see SADDAN
• Saethre-Chotzen syndrome
• SAHS, see Obstructive sleep apnea
• Saldino-Mainzer dysplasia, see Mainzer-Saldino syndrome
• Saldino-Mainzer syndrome, see Mainzer-Saldino syndrome
• Salih CMD, see Early-onset myopathy with fatal cardiomyopathy
• Salih congenital muscular dystrophy, see Early-onset myopathy with fatal cardiomyopathy
• Salih myopathy, see Early-onset myopathy with fatal cardiomyopathy
• 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 CLN1 disease
• sarcoma family syndrome of Li and Fraumeni, see Li-Fraumeni syndrome
• sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome, see Li-Fraumeni syndrome
• SAS, see SATB2-associated syndrome
• SATB2-associated syndrome
• Saul-Wilson 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 Short/branched chain acyl-CoA dehydrogenase deficiency
• SBH, see Subcortical band heterotopia
• 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
• Scalp-ear-nipple syndrome
• 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 acrocallosal syndrome, see Acrocallosal syndrome
• Schinzel Giedion syndrome, see Schinzel-Giedion syndrome
• Schinzel syndrome 1, see Acrocallosal syndrome
• Schinzel-Giedion midface retraction syndrome, see Schinzel-Giedion syndrome
• Schinzel-Giedion syndrome
• schizo-affective psychosis, see Schizoaffective disorder
• schizo-affective type schizophrenia, see Schizoaffective disorder
• Schizoaffective disorder
• schizoaffective psychosis, see Schizoaffective disorder
• schizoaffective schizophrenia, see Schizoaffective disorder
• Schizophrenia
• schizophrenia, schizo-affective type, see Schizoaffective disorder
• schizophreniform psychosis, affective type, see Schizoaffective disorder
• Schuurs-Hoeijmakers syndrome, see PACS1 syndrome
• schwannoma, acoustic, bilateral, see Neurofibromatosis type 2
• Schwannomatosis
• 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 absence of class II HLA antigens, see Bare lymphocyte syndrome type II
• SCID due to ADA deficiency, see Adenosine deaminase deficiency
• SCID, HLA class 2-negative, see Bare lymphocyte syndrome type II
• SCID, HLA class II-negative, see Bare lymphocyte syndrome type II
• SCIDX1, see X-linked severe combined immunodeficiency
• sclerocystic ovarian degeneration, see Polycystic ovary syndrome
• sclerocystic ovaries, see Polycystic ovary syndrome
• sclerocystic ovary syndrome, see Polycystic ovary syndrome
• sclerosing cholangitis, see Primary sclerosing cholangitis
• sclerosis tuberosa, see Tuberous sclerosis complex
• sclerosteosis, see SOST-related sclerosing bone dysplasia
• SCLH, see Subcortical band heterotopia
• SCN8A encephalopathy, see SCN8A-related epilepsy with encephalopathy
• SCN8A-related epilepsy with encephalopathy
• 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
• seasickness, see Motion sickness
• Seasonal affective disorder
• seasonal depression, see Seasonal affective disorder
• seasonal mood disorder, see Seasonal affective disorder
• 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 with metatarsal shortening, see Czech 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
• SEN syndrome, see Scalp-ear-nipple syndrome
• SENDA, see Beta-propeller protein-associated neurodegeneration
• Senior-Loken syndrome, see Senior-Løken syndrome
• Senior-Løken syndrome
• SENS, see Scalp-ear-nipple 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
• SETBP1 disorder
• SETBP1 related developmental delay, see SETBP1 disorder
• SETBP1-related disorder, see SETBP1 disorder
• SETBP1-related intellectual disability, see SETBP1 disorder
• Severe achondroplasia with developmental delay and acanthosis nigricans, see SADDAN
• severe combined immunodeficiency due to absent class II human leukocyte antigens, see Bare lymphocyte syndrome type II
• 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 combined immunodeficiency, HLA class II-negative, see Bare lymphocyte syndrome type II
• 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 neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion, see 5q31.3 microdeletion syndrome
• 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
• Shingles
• SHM, see Sporadic hemiplegic migraine
• SHMS, see PACS1 syndrome
• 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-sighted, see Nearsightedness
• short-sightedness, see Nearsightedness
• Short/branched chain acyl-CoA dehydrogenase deficiency
• short/branched-chain acyl-CoA dehydrogenase deficiency, see Short/branched chain acyl-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's disease, see Central core disease
• 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
• sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, see TRNT1 deficiency
• Siegal-Cattan-Mamou disease, see Familial Mediterranean fever
• Siemerling-Creutzfeldt disease, see X-linked adrenoleukodystrophy
• SIFD, see TRNT1 deficiency
• 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
• Simpson-Golabi-Behmel syndrome type 1, see 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
• SKS, see Smith-Kingsmore syndrome
• SLC29A3 disorder, see Histiocytosis-lymphadenopathy plus syndrome
• SLC29A3 spectrum disorder, see Histiocytosis-lymphadenopathy plus syndrome
• SLC35A2-CDG, see SLC35A2-congenital disorder of glycosylation
• SLC35A2-congenital disorder of glycosylation
• 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
• sleep apnea hypopnea syndrome, see Obstructive sleep apnea
• sleep apnea syndrome, obstructive, see Obstructive sleep apnea
• sleep apnea, obstructive, see Obstructive sleep apnea
• sleep apnea/hypopnea syndrome, see Obstructive sleep apnea
• 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-associated SMA, see Spinal muscular atrophy
• SMA-LED, see Spinal muscular atrophy with lower extremity predominance
• 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
• SMAX2, see X-linked infantile spinal muscular atrophy
• SMED, Strudwick type, see Spondyloepimetaphyseal dysplasia, Strudwick type
• SMED, type I, see Spondyloepimetaphyseal dysplasia, Strudwick type
• Smith-Kingsmore syndrome
• Smith-Lemli-Opitz syndrome
• Smith-Magenis syndrome
• SMS, see Smith-Magenis syndrome
• SND, see Sick sinus syndrome
• Sneddon syndrome, see Adenosine deaminase 2 deficiency
• SNIBCPS, see Snijders Blok-Campeau syndrome
• Snijders Blok-Campeau syndrome
• 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 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 49, autosomal recessive, see Spastic paraplegia type 49
• spastic paraplegia 5A, see Spastic paraplegia type 5A
• 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 49
• Spastic paraplegia type 5A
• 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
• spenlic hypoplasia, see Isolated congenital asplenia
• 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
• 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
• SPG49, see Spastic paraplegia type 49
• SPG5A, see Spastic paraplegia type 5A
• 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
• Spielmeyer-Vogt disease, see CLN3 disease
• Spina bifida
• spinal amyotrophies, see Spinal muscular atrophy
• spinal amyotrophy, see Spinal muscular atrophy
• Spinal and bulbar muscular atrophy
• spinal dysraphism, see Spina bifida
• spinal muscle degeneration, see Spinal muscular atrophy
• spinal muscle wasting, see Spinal muscular atrophy
• Spinal muscular atrophy
• Spinal muscular atrophy with lower extremity predominance
• 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, childhood, proximal, autosomal dominant, see Spinal muscular atrophy with lower extremity predominance
• 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
• spinal muscular atrophy, infantile X-linked, see X-linked infantile spinal muscular atrophy
• spinal muscular atrophy, juvenile, proximal, autosomal dominant, see Spinal muscular atrophy with lower extremity predominance
• spinal muscular atrophy, lower extremity, autosomal dominant, see Spinal muscular atrophy with lower extremity predominance
• spinal muscular atrophy, lower extremity, dominant, see Spinal muscular atrophy with lower extremity predominance
• spinal muscular atrophy, X-linked 2, see X-linked infantile spinal muscular atrophy
• spinal muscular atrophy, X-linked lethal infantile, see X-linked infantile spinal muscular atrophy
• 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 congenita
• spondyloepiphyseal dysplasia tarda with progressive arthropathy, see Progressive pseudorheumatoid dysplasia
• spondyloepiphyseal dysplasia with congenital joint dislocations, see CHST3-related skeletal dysplasia
• spondyloepiphyseal dysplasia with metatarsal shortening, see Czech 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
• spondylometaepiphyseal dysplasia, anauxetic type, see Anauxetic dysplasia
• spondylometaepiphyseal dysplasia, Menger type, see Anauxetic dysplasia
• Spondylometaphyseal dysplasia (SMD), see Spondyloepimetaphyseal dysplasia, Strudwick type
• Spondyloperipheral dysplasia
• spondyloperipheral dysplasia with short ulna, see Spondyloperipheral dysplasia
• Spondylothoracic dysostosis
• spongy myocardium, see Left ventricular noncompaction
• 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
• spun glass hair, see Uncombable hair syndrome
• 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
• STAC3 disorder
• 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
• static encephalopathy of childhood with neurodegeneration in adulthood, see Beta-propeller protein-associated neurodegeneration
• 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
• Stein-Leventhal syndrome, see Polycystic ovary 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 Primary familial brain calcification
• Strudwick syndrome, see Spondyloepimetaphyseal dysplasia, Strudwick type
• Stuart-Prower factor deficiency, see Factor X deficiency
• Sturge-Weber syndrome
• Sturge-Weber-Dimitri syndrome, see Sturge-Weber syndrome
• Sturge-Weber-Krabbe syndrome, see Sturge-Weber syndrome
• 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
• STXBP1 encephalopathy
• STXBP1 encephalopathy with epilepsy, see STXBP1 encephalopathy
• STXBP1 epileptic encephalopathy, see STXBP1 encephalopathy
• STXBP1-related developmental and epileptic encephalopathy, see STXBP1 encephalopathy
• STXBP1-related early-onset encephalopathy, see STXBP1 encephalopathy
• STXBP1-related epileptic encephalopathy, see STXBP1 encephalopathy
• Stüve-Wiedemann syndrome
• subacute necrotizing encephalomyelopathy, see Leigh syndrome
• Subcortical band heterotopia
• subcortical laminar heterotopia, see Subcortical band heterotopia
• 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
• Sudanophilic leukodystrophy, see Pelizaeus-Merzbacher disease
• 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
• sulfocysteinuria, see Isolated sulfite oxidase deficiency
• 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
• SWS, see Sturge-Weber 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 juvenile rheumatoid arthritis, see Juvenile idiopathic arthritis
• Systemic lupus erythematosus
• systemic mast cell disease, see Systemic mastocytosis
• systemic mast-cell disease, see Systemic mastocytosis
• systemic mastocytoses, see Systemic mastocytosis
• Systemic mastocytosis
• Systemic scleroderma
• systemic sclerosis, see Systemic scleroderma
• systemic tissue mast cell disease, see Systemic mastocytosis
• Sézary syndrome

Genetics Home Reference has merged with MedlinePlus. Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus. Learn more

The resources on this site should not be used as a substitute for professional medical care or advice. Users with questions about a personal health condition should consult with a qualified healthcare professional.