| Syndrome |
Gene |
Chromosome |
Location |
Category |
| Sandhoff disease | HEXB | 5 | q13.3 | Ataxia spectrum | |
| SCHAAF-YANG SYNDROME | SHFYNG | 15 | q11.2 | Autism spectrum | |
| Schimke immuno-osseous dysplasia | SMARCAL1 | 2 | q35 | Hypothyroidism | |
| Schindler`s disease | NAGA | 22 | q11 | Autism spectrum | |
| Schinzel-Giedion syndrome | SETBP1 | 18 | q12.3 | Autism spectrum | |
| Schizophrenia 17 | NTXN1 | 2 | p16.3 | Schizophrenia | |
| SCHUURS-HOEIJMAKERS SYNDROME | SHMS | 11 | Q13.1-13.2 | Autism spectrum | |
| SCN8A-related epilepsy with encephalopathy | SCN8A | 12 | q13.13 | Epilepsy and seizures | |
| Seasonal affective disorder | ARNTL | 11 | p15.3 | Sleep disorders | |
| Seasonal affective disorder | BHLHE41 | 12 | p12.1 | Sleep disorders | |
| Seasonal affective disorder | CLOCK | 4 | q12 | Sleep disorders | |
| Seasonal affective disorder | CRY2 | 11 | p11.2 | Sleep disorders | |
| Seasonal affective disorder | HTR2A | 13 | q14.2 | Sleep disorders | |
| Seasonal affective disorder | NPAS2 | 2 | q11.2 | Sleep disorders | |
| Seasonal affective disorder | OPN4 | 10 | q23.2 | Sleep disorders | |
| Seasonal affective disorder | PER2 | 2 | q37.3 | Sleep disorders | |
| SEMAPHORIN 5A | SEMA5A | 5 | p15.31 | Autism spectrum | |
| Sepiapterin reductase deficiency | SPR | 2 | p12-p14 | Microcephaly | |
| SeSAME syndrome | KCNJ10 | 1 | q23.2 | Epilepsy and seizures | |
| SET DOMAIN-CONTAINING PROTEIN 1A | SETD1A | 16 | p11.2 | Autism spectrum | |
| Severe myopia with cataract and vitreoretinal degeneration (MCVD) | P3H2 | 3 | q28 | Cataracts | |
| SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 1 | SHANK1 | 19 | q13.33 | Autism spectrum | |
| SHANK2 Deletion Syndrome | KMT5B | 11 | q13.2 | Autism spectrum | |
| SHANK2 Deletion Syndrome | SHANK2 | 11 | q13.2 | Autism spectrum | |
| SHASHI-PENA SYNDROME | SHAPNS | 2 | p23.3 | Autism spectrum | |
| SHORT STATURE RHIZOMELIC WITH MICROCEPHALY MICROGNATHIA AND DELAY | SRMMD | 11 | q23.3 | Autism spectrum | |
| Short stature with microcephaly and distinctive facies (SSMF) | CRIPT | 2 | p21 | Microcephaly | |
| Short-chain acyl-CoA dehydrogenase (SCAD) deficiency | ACADS | 12 | q24.31 | Microcephaly | |
| Short-chain acyl-CoA dehydrogenase deficiency | ACADS | 12 | q24.31 | Reye`s Syndrome-like diseases | |
| Short-rib thoracic dysplasia 13 | CEP120 | 5 | q23.2 | Cleft lip / cleft palate | |
| Short-rib thoracic dysplasia 13 | IFT172 | 2 | p23.3 | Cleft lip / cleft palate | |
| Short-rib thoracic dysplasia 13 | NEK1 | 4 | q33 | Cleft lip / cleft palate | |
| Short-rib thoracic dysplasia 13 | WDR34 | 9 | q34.11 | Cleft lip / cleft palate | |
| Short-rib thoracic dysplasia 13 | WDR60 | 7 | q36.3 | Cleft lip / cleft palate | |
| Sialic acid storage disease | SLC17A5 | 6 | q13 | Ataxia spectrum | |
| Sialidosis | NEU1 | 6 | p21.33 | Ataxia spectrum | |
| Sick sinus syndrome | HCN4 | 15 | q24.1 | Bradycardia (<60 beats/minute) | |
| Sick sinus syndrome | MYH6 | 14 | q12 | Bradycardia (<60 beats/minute) | |
| Sick sinus syndrome | SCN5A | 3 | p21 | Bradycardia (<60 beats/minute) | |
| SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME | MRXSSD | 23 | p11.22 | Autism spectrum | |
| Siderius-Hamel syndrome | PHF8 | 23 | p11.22 | Cleft lip / cleft palate | |
| Sinoatrial node dysfunction | CACNA1D | 3 | p14.3 | Bradycardia (<60 beats/minute) | |
| SJS/TEN Stevens-Johnson syndrome/toxic epidermal necrolysis | HLA-B | 6 | p21.33 | Alopecia | |
| SKRABAN-DEARDORFF SYNDROME | SKDEAS | 1 | Q42.11-12 | Autism spectrum | |
| Sleep-wake schedule disorder - delayed phase type | AANAT | 17 | q25.1 | Sleep disorders | |
| Sleep-wake schedule disorder - delayed phase type | CRY1 | 12 | q23.3 | Sleep disorders | |
| SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2C | SRGAP2C | 1 | p11.2 | Autism spectrum | |
| Small fiber neuropathy | SCN10A | 3 | p22.2 | Tachycardia (>100 beats/minute) | |
| Small fiber neuropathy | SCN9A | 2 | q24 | Tachycardia (>100 beats/minute) | |
| SMITH-KINGSMORE SYNDROME | SKS | 1 | p36.22 | Autism spectrum | |
| Smith-Lemli-Opitz syndrome | DHCR7 | 11 | q13.4 | Autism spectrum | |
| Smith-Lemli-Opitz syndrome | SLOS | 11 | q13.4 | Autism spectrum | |
| Smith-Magenis syndrome | RAI1 | 17 | p11.2 | Autism spectrum | |
| Snijders Blok-Campeau syndrome | CHD3 | 17 | p13 | Autism spectrum | |
| Snijders Blok-Campeau syndrome | SNIBCPS | 17 | p13.1 | Autism spectrum | |
| Snyder-Robinson syndrome | SMS | 23 | p22.1 | Cleft lip / cleft palate | |
| SOLUTE CARRIER FAMILY 9 MEMBER 1 | SLC9A1 | 1 | p36.11 | Autism spectrum | |
| Sotos syndrome | NSD1 | 5 | q35.3 | Panic phobia anxiety | |
| SOTOS SYNDROME 2 | SOTOS2 | 19 | p13.13 | Autism spectrum | |
| SOTOS SYNDROME 3 | SOTOS3 | 19 | p13.3 | Autism spectrum | |
| Spastic ataxia autosomal dominant type 01 | VAMP1 | 12 | p13.31 | Ataxia spectrum | |
| Spastic ataxia autosomal recessive type 02 | KIF1C | 17 | p13.2 | Ataxia spectrum | |
| Spastic ataxia autosomal recessive type 03 | MARS2 | 2 | q33.1 | Ataxia spectrum | |
| Spastic paraplegia | SPAST | 2 | p22.3 | Autism spectrum | |
| Spastic paraplegia type 8 | WASHC5 | 8 | q24.13 | Copper metabolism defects | |
| SPECIFIC LANGUAGE IMPAIRMENT 3 | SLI3 | 13 | q21 | Autism spectrum | |
| SPECIFIC LANGUAGE IMPAIRMENT 4 | SLI4 | 7 | q35-q36 | Autism spectrum | |
| SPECIFIC LANGUAGE IMPAIRMENT 5 | SLI5 | 2 | q36.3 | Autism spectrum | |
| SPEECH-LANGUAGE DISORDER 1 | SPCH1 | 7 | q31.1 | Autism spectrum | |
| Spinal muscular atrophy with progressive myoclonic epilepsy | ASAH1 | 8 | p22 | Epilepsy and seizures | |
| Spinocerebellar ataxia autosomal recessive type 15 | RUBCN | 3 | q29 | Ataxia spectrum | |
| SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 20 | SCAR20 | 6 | q14.3 | Autism spectrum | |
| Spinocerebellar ataxia autosomal recessive type 02 | PMPCA | 9 | q34.3 | Ataxia spectrum | |
| Spinocerebellar ataxia autosomal recessive type 10 | ANO10 | 3 | p22.1 | Ataxia spectrum | |
| Spinocerebellar ataxia autosomal recessive type 11 | SYT14 | 1 | q32.2 | Ataxia spectrum | |
| Spinocerebellar ataxia autosomal recessive type 12 | WWOX | 16 | q23.1-2 | Ataxia spectrum | |
| Spinocerebellar ataxia autosomal recessive type 14 | SPTBN2 | 11 | q13.2 | Ataxia spectrum | |
| Spinocerebellar ataxia autosomal recessive type 16 | STUB1 | 16 | p13.3 | Ataxia spectrum | |
| Spinocerebellar ataxia autosomal recessive type 17 | CWF19L1 | 10 | q24.31 | Ataxia spectrum | |
| Spinocerebellar ataxia autosomal recessive type 18 | GRID2 | 4 | q22.1-2 | Ataxia spectrum | |
| Spinocerebellar ataxia autosomal recessive type 22 | VWA3B | 2 | q11.2 | Ataxia spectrum | |
| Spinocerebellar ataxia autosomal recessive with axonal neuropathy type 01 | TDP1 | 14 | q32.11 | Ataxia spectrum | |
| Spinocerebellar ataxia type 01 | ATXN1 | 6 | p22.3 | Ataxia spectrum | |
| Spinocerebellar ataxia type 02 | ATXN2 | 12 | q24.12 | Ataxia spectrum | |
| Spinocerebellar ataxia type 03 | ATXN3 | 14 | q32.12 | Ataxia spectrum | |
| Spinocerebellar ataxia type 05 | SPTBN2 | 11 | q13.2 | Ataxia spectrum | |
| Spinocerebellar ataxia type 06 | CACNA1A | 19 | p13.13 | Ataxia spectrum | |
| Spinocerebellar ataxia type 08 | ATXN8OS | 13 | q21.33 | Ataxia spectrum | |
| Spinocerebellar ataxia type 10 | ATXN10 | 22 | q13.31 | Ataxia spectrum | |
| Spinocerebellar ataxia type 11 | TTBK2 | 15 | q15.2 | Ataxia spectrum | |
| Spinocerebellar ataxia type 12 | PPP2R2B | 5 | q32 | Ataxia spectrum | |
| Spinocerebellar ataxia type 14 | PRKCG | 19 | q13.42 | Ataxia spectrum | |
| Spinocerebellar ataxia type 15 | ITPR1 | 3 | p26.1 | Ataxia spectrum | |
| Spinocerebellar ataxia type 21 | TMEM240 | 1 | p36.33 | Ataxia spectrum | |
| Spinocerebellar ataxia type 27 | FGF14 | 13 | q33.1 | Ataxia spectrum | |
| Spinocerebellar ataxia type 29 | ITPR1 | 3 | p26.1 | Ataxia spectrum | |
| Spinocerebellar ataxia type 31 | BEAN1 | 16 | q21 | Ataxia spectrum | |
| Spinocerebellar ataxia type 35 | TGM6 | 20 | p13 | Ataxia spectrum | |
| Spinocerebellar ataxia type 36 | NOP56 | 20 | p13 | Ataxia spectrum | |
| Spinocerebellar ataxia type 38 | ELOVL5 | 6 | p12.1 | Ataxia spectrum | |
| Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) | ACP5 | 19 | p13.2 | Hypothyroidism | |
| SPONDYLOEPIMETAPHYSEAL DYSPLASIA FADEN-ALKURAYA TYPE | SEMDFA | 16 | q13 | Autism spectrum | |
| Sporadic hemiplegic migraine | ATP1A2 | 1 | q23.2 | Ataxia spectrum | |
| SRY-BOX 10 | SOX10 | 22 | q13.1 | Autism spectrum | |
| Stankiewicz-Isidor syndrome | PSMD12 | 17 | q24.2 | Autism spectrum | |
| Stankiewicz-Isidor syndrome | STISS | 17 | q24.2 | Autism spectrum | |
| STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME | SDSX | 23 | p11.22 | Autism spectrum | |
| STXBP1 encephalopathy with epilepsy | STXBP1 | 9 | q34.11 | Epilepsy and seizures | |
| Succinic semialdehyde dehydrogenase deficiency | ALDH5A1 | 6 | p22.3 | Panic phobia anxiety | |
| Succinic semialdehyde dehydrogenase deficiency | SSADHD | 6 | p22.3 | Panic phobia anxiety | |
| SUPPRESSOR OF TUMORIGENICITY 7 | ST7 | 7 | q31.2 | Autism spectrum | |
| SYNDECAN 2 | SDC2 | 8 | q22.1 | Autism spectrum | |
| Syndromic Microphthalmia | VAX1 | 10 | q26.1 | Cleft lip / cleft palate | |