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
• 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
• SpA, see Ankylosing spondylitis
• 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
• spondyloarthritis, 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
• SRD5A3-CDG, see SRD5A3-congenital disorder of glycosylation
• SRD5A3-congenital disorder of glycosylation
• SRS, see Russell-Silver syndrome
• SRS, see Snyder-Robinson 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, see Supravalvular aortic stenosis
• 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