| Disorder | Chromosome or gene | Type | Reference | Prevalence |
|---|
| 1p36 deletion syndrome | 1 | D | | 1:5,000-10,000 |
| 1q21.1 deletion syndrome | 1q21.1 | D | | 1:6,500 |
| 2q37 deletion syndrome | 2q37 | D | | <1:1,000,000 |
| 5q deletion syndrome | 5q | D | | 1:20,000 |
| 5,10-methenyltetrahydrofolate synthetase deficiency | MTHFS | | [2] | |
| 7p22.1 microduplication syndrome | 7p22.1 | | | <1:1,000,000 |
| 17q12 microdeletion syndrome | 17q12 | | [3][4] | 1:14,000-62,500 |
| 17q12 microduplication syndrome | 17q12 | | [5] | |
| 18p deletion syndrome | 18p | D | | 1:50,000 |
| 21-hydroxylase deficiency | 6p21.3 | recessive | | 1:15,000 |
| Alpha 1-antitrypsin deficiency | 14q32 | co-dominant, | | 1:2,500-5,000 |
| AAA syndrome (achalasia–addisonianism–alacrima syndrome) | AAAS | recessive | [6] | 1:1,000,000 |
| Aarskog–Scott syndrome | FGD1 | X-linked recessive | | 1:25,000 |
| ABCD syndrome | EDNRB | recessive | | 1:18,000-20,000 |
| Absence deformity of leg-cataract syndrome | | | | |
| Aceruloplasminemia | CP (3p26.3) | recessive | | 1:2,000,000 |
| Acheiropodia | LMBR1 | recessive | | |
| Achondrogenesis type II | COL2A1 (12q13.11) | dominant | | 1:40,000-60,000 |
| Achondroplasia | FGFR3 (4p16.3) | dominant | | 1:27,500 |
| Acute intermittent porphyria | HMBS | dominant and recessive forms | | 1:500-50,000 |
| Adenylosuccinate lyase deficiency | ADSL | recessive | | |
| Adrenoleukodystrophy | ABCD1 (X) | recessive | | 1:17,000 |
| Alagille syndrome | JAG1,NOTCH2 | dominant | [7] | 1:30,000-50,000 |
| ADULT syndrome | TP63 | dominant | | |
| Aicardi–Goutières syndrome | TREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR,IFIH1 | | | 1:19,500,000 |
| Albinism | | | | 1:18,000-20,000 |
| Alexander disease | GFAP | | | 1:15,600,000 |
| Alfi's syndrome | 9p | monosomy | | 1:50,000 |
| Alkaptonuria | HGD | | | 1:250,000-1,000,000 |
| Alport syndrome | 10q26.13COL4A3,COL4A4, andCOL4A5 | | | 1:5,000-10,000 |
| Alternating hemiplegia of childhood | ATP1A3 | | | 1:1,000,000 |
| Aortic arch anomaly - peculiar facies - intellectual disability | | dominant | | |
| Amish lethal microcephaly | SLC25A19 | recessive | | |
| Amyotrophic lateral sclerosis –Frontotemporal dementia | C9orf72,SOD1,FUS,TARDBP,CHCHD10,MAPT | | | 1:100,000 |
| Angel-shaped phalango-epiphyseal dysplasia | GDF5 | dominant | | |
| Alström syndrome | ALMS1 | | | 1:8,600,000 |
| Alzheimer's disease | PSEN1,PSEN2,APP,APOEε4 | | | 1:177 |
| Amelogenesis imperfecta | | | | 1:14,000 |
| Aminolevulinic acid dehydratase deficiency porphyria | ALAD | | | 1:780,000,000 |
| Androgen insensitivity syndrome | | | | 1:20,000-50,000 |
| Angelman syndrome | UBE3A | | | 1:12,000-20,000 |
| Aphalangy-syndactyly-microcephaly syndrome | | dominant | | |
| Apert syndrome | FGFR2 | | | 1:65,000-80,000 |
| Arthrogryposis–renal dysfunction–cholestasis syndrome | VPS33B | | | 1:78,000,000 |
| Arboleda-Tham Syndrome | KAT6A(8p11.21) | Dominant | | |
| Ataxia telangiectasia | ATM | | | 1:40,000-1,000,000 |
| Axenfeld syndrome | PITX2,FOXO1A,FOXC1,PAX6 | | | 1:200,000 |
| Bainbridge–Ropers syndrome | ASXL3 | de novo | | |
| Beare–Stevenson cutis gyrata syndrome | 10q26,FGFR2 | | | 1:390,000,000 |
| Beckwith–Wiedemann syndrome | IGF-2,CDKN1C,H19,KCNQ1OT1 | | | 1:15,000 |
| Benjamin syndrome | | | | 1:20,000,000 |
| biotinidase deficiency | BTD | | | 1:110,000,000 |
| Björnstad syndrome | BCS1L | | | 1:260,000,000 |
| Blepharophimosis intellectual disability syndromes | | | | |
| Bloom syndrome | 15q26.1 | | | 1:480,000 |
| Birt–Hogg–Dubé syndrome | 17FLCN | | | 1:19,500,000 |
| Brody myopathy | ATP2A1 | | | 1:10,000,000 |
| Brunner syndrome | MAOA | | | 1:500,000,000 |
| CADASIL syndrome | NOTCH3 | P | | 1:156,000,000 |
| Cat eye syndrome | 22 | | | 1:74,000 | |
| CATSHL syndrome | FGFR3 | dominant/recessive | [8] | | |
| CRASIL syndrome | HTRA1 | | | 1:156,000,000 |
| Chronic granulomatous disorder | | | | 1:200,000 |
| Campomelic dysplasia | X 17q24.3–q25.1 | C | | 1:40,000-200,000 |
| Camptodactyly-taurinuria syndrome | | dominant | | |
| Canavan disease | ASPA | | | 1:6,400-13,500 |
| Carpenter syndrome | RAB23 | | | 1:1,000,000 |
| CDKL5 deficiency disorder | CDKL5 | | [9] | 1:40,000-60,000[9] |
| Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (CEDNIK) | SNAP29 | | | <1:1,000,000[10] |
| Cleft palate short stature vertebral anomalies syndrome | | | | |
| Combined malonic and methylmalonic aciduria (CMAMMA) | ACSF3 | recessive | [11][12] | 1:30,000[11] |
| Combined malonic and methylmalonic aciduria (CMAMMA) | MLYCD | recessive | | |
| Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome | | recessive | | |
| Cystic fibrosis | CFTR (7q31.2) | D or S | [13] | 1:100,000 |
| Charcot–Marie–Tooth disease | PMP22,MFN2 | | | 1:2,500 |
| CHARGE syndrome | CHD7 | | | 1:8,500-10,000 |
| Chédiak–Higashi syndrome | LYST | recessive | | 1:39,000,000 |
| Chondrodysplasia, Grebe type | GDF5 | autosomal recessive | [14] | |
| Cleidocranial dysostosis | RUNX2 | | | 1:7,800 |
| Cockayne syndrome | ERCC6,ERCC8 | | | 1:2,600-3,900 |
| Coffin–Lowry syndrome | XRPS6KA3 | | | 1:40,000-50,000 |
| Cohen syndrome | COH1 | | | 1:7,800,000 |
| Collagenopathy, types II and XI | COL11A1,COL11A2,COL2A1 | | | |
| Congenital insensitivity to pain with anhidrosis (CIPA) | NTRK1 | | | |
| Congenital muscular dystrophy | multiple | dominant or recessive | [15] | |
| Corneal dystrophy-perceptive deafness syndrome | SLC4A11 | autosomal recessive | [16] | |
| Cornelia de Lange syndrome (CDLS) | HDAC8,SMC1A,NIPBL,SMA3,RAD21 | | | 1:10,000-30,000 |
| Cowden syndrome | PTEN | | | 1:200,000 |
| CPO deficiency (coproporphyria) | CPOX | | | |
| Cranio-lenticulo-sutural dysplasia | 14q13–q21 | | | |
| Cri du chat | 5p15.2 | D | [17][18] | 1:37,000-50,000 |
| Crohn's disease | 16q12 | P | | |
| Crouzon syndrome | FGFR2,FGFR3 | | | 1.6:100,000 |
| Crouzonodermoskeletal syndrome (Crouzon syndrome with acanthosis nigricans) | FGFR3 | | | 1:1,000,000 |
| Currarino syndrome | HLXB9 | dominant | | 1:100,000 |
| Darier's disease | ATP2A2 | | | 1:30,000-100,000 |
| Dent's disease (Genetic hypercalciuria) | Xp11.22CLCN5,OCRL | | | |
| Denys–Drash syndrome | WT1 | | | |
| De Grouchy syndrome | 18q | D | | |
| Dolichonychia | | | | |
| Down syndrome | 21 | C | | 1:1,000-1,100
1:1,200 (U.S.) |
| DiGeorge syndrome | 22q11.2 | D | | 1:4,000 |
| Distal hereditary motor neuropathies, multiple types | HSPB8,HSPB1,HSPB3,GARS,REEP1,IGHMBP2,SLC5A7,DCTN1,TRPV4,SIGMAR1 | | | |
| Distal muscular dystrophy | Dysferlin,TIA1,GNE (gene),MYH7,Titin,MYOT,MATR3, unknown | Dominant or recessive | [19] | |
| Duchenne muscular dystrophy | Dystrophin | X-linked recessive | [20] | |
| Dravet syndrome | SCN1A,SCN2A | | | 1:20,000-40,000 |
| Ectrodactyly-polydactyly syndrome | | | | |
| Edwards syndrome | 18 | trisomy | | 1:5,000 |
| Ehlers–Danlos syndrome | COL1A1,COL1A2,COL3A1,COL5A1,COL5A2,TNXB,ADAMTS2,PLOD1,B4GALT7,DSE | dominant | | 1:5,000 |
| Emanuel syndrome | 11, 22 | partial trisomy | | |
| Emery–Dreifuss syndrome | EMD,LMNA,SYNE1,SYNE2,FHL1,TMEM43 | | | |
| Epidermolysis bullosa | KRT5,KRT14,DSP,PKP1,JUP,PLEC1,DST,EXPH5,TGM5,LAMA3,LAMB3,LAMC2,COL17A1,ITGA6,ITGA4,ITGA3,COL7A1,FERMT1 | dominant or recessive | [21][22] | 11.08:1,000,000 |
| Erythropoietic protoporphyria | FECH | | | 1:75,000-200,000 |
| Fanconi anemia (FA) | FANCA,FANCB,FANCC,FANCD1,FANCD2,FANCE,FANCF,FANCG,FANCI,FANCJ,FANCL,FANCM,FANCN,FANCP,FANCS,RAD51C,XPF | | | 1:130,000 |
| Fabry disease | GLA (Xq22.1) | P | | 1:117,000-476,000 |
| Factor V Leiden thrombophilia | | | | |
| Fatal familial insomnia | PRNP | dominant | | |
| Familial adenomatous polyposis | APC | | | 1:10,000-15,000 |
| Familial dysautonomia | IKBKAP | | | |
| Familial Creutzfeld–Jakob disease | PRNP | dominant | | |
| Familial episodic pain syndrome | TRPA1,SCN10A,SCN11A | dominant | | |
| Familial thoracic aortic aneurysm and aortic dissection | FOXE3,SMAD2,LOX,MAT2A,ELN,HEY2,TGFB3,TGFBR1,TGFBR2,FBN1,ACTA2,MYLK,SMAD3,PRKG1,MFAP5,TGFB2,SMAD4,MYH11 | dominant | | |
| Feingold syndrome | MYCN | | | |
| FG syndrome | MED12 | | | |
| FBXW7 neurodevelopmental syndrome | FBXW7 | | | |
| Fibular aplasia-ectrodactyly syndrome | | dominant | | |
| Fine-Lubinsky syndrome | MAF | recessive | | |
| Fragile X syndrome | FMR1 | T | | 1:4,000 males 1:8,000 females |
| Friedreich's ataxia | FXN | T | | 1:50,000 (U.S.) |
| G6PD deficiency | | X-linked recessive | [23] | |
| Galactosemia | GALT,GALK1,GALE | | | |
| Gaucher disease | GBA (1) | | | 1:20,000 |
| Gerstmann–Sträussler–Scheinker syndrome | PRNP | dominant | | |
| Gillespie syndrome | PAX6 | | | |
| Glutaric aciduria,type I andtype 2 | GCDH,ETFA,ETFB,ETFDH | recessive | | |
| GRACILE syndrome | BCS1L | | | |
| GRIN2B-related neurodevelopmental disorder | GRIN2B | | | |
| Griscelli syndrome | MYO5A,RAB27A,MLPH | | | |
| Gustavson syndrome | | | | |
| Hailey–Hailey disease | ATP2C1 (3) | | | |
| Harlequin type ichthyosis | ABCA12 | | | |
| Hemochromatosis type 1 | HFE (chromosome 6) | recessive | | 1:200 (Northern Europe), 1:300 (Northern America) |
| Hemochromatosis type 2A | HJV (or HFE2A) (chromosome 1) | recessive | | |
| Hemochromatosis type 2B | HAMP (or HFE2B) (chromosome 19) | recessive | | |
| Haemochromatosis type 3 | TFR2 (or HFE3) (chromosome 7) | recessive | | |
| Hemochromatosis type 4 | SLC40A1 (or HFE4) (chromosome 2) | dominant | | |
| Hemochromatosis type 5 | FTH1 (chromosome 11) | dominant | | |
| Hemophilia | FVIII | | | 1:7,500 males (hemophilia A) 1:40,000 males (hemophilia B) |
| Hepatoerythropoietic porphyria | UROD | | | |
| Hereditary coproporphyria | 3q12 | P | | |
| Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) | ENG,ACVRL1,MADH4 | | | 1:5,000[24] |
| Hereditary inclusion body myopathy | GNE,MYHC2A,VCP,HNRPA2B1,HNRNPA1 | | | |
| Hereditary multiple exostoses | EXT1,EXT2,EXT3 | | | 1:50,000 |
| Hereditary spastic paraplegia (infantile-onset ascending hereditary spastic paralysis) | AP4M1,AP4S1,AP4B1,AP4E1 | autosomal dominant, autosomal recessive or X-linked recessive | | 2-6:100,000 |
| Hermansky–Pudlak syndrome | HPS1,HPS3,HPS4,HPS5,HPS6,HPS7,AP3B1 | | | 1:500,000 |
| Hereditary neuropathy with liability to pressure palsies (HNPP) | PMP22 | | | |
| Heterotaxy | NODAL,NKX2-5,ZIC3,CCDC11,CFC1,SESN1 | | | |
| Homocystinuria | CBS (gene) | recessive | [25] | |
| Huntington's disease | chromosome 4 HTT gene | autosomal dominant | | 1:10,000 in US |
| Hunter syndrome | IDS | | | 1:100,000-150,000 males |
| Hurler syndrome | IDUA | | | 1:100,000 |
| Hutchinson–Gilford progeria syndrome | LMNA | | | 1:18,000,000 |
| Hyperlysinemia | AASS | recessive | | |
| Hyperoxaluria, primary | AGXT,GRHPR,DHDPSL | | | |
| Hyperphenylalaninemia | 12q | | | |
| Hypoalphalipoproteinemia (Tangier disease) | ABCA1 | | | |
| Hypochondrogenesis | COL2A1 | | | |
| Hypochondroplasia | FGFR3 (4p16.3) | | | |
| Immunodeficiency–centromeric instability–facial anomalies syndrome (ICF syndrome) | 20q11.2 | | | |
| Incontinentia pigmenti | IKBKG (Xq28) | P | | |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | MED17 | recessive | | |
| Ischiopatellar dysplasia | TBX4 | dominant | | |
| Isodicentric 15 | 15q11–14 | Inv dup | | 1:30,000[26] |
| PRICKLE1-related progressive myoclonus epilepsy with ataxia | PRICKLE1 | dominant or recessive | | |
| Jackson–Weiss syndrome | FGFR2 | | | |
| Jacobsen syndrome | 11 | | | 1:100,000 |
| Joubert syndrome | INPP5E,TMEM216,AHI1,NPHP1,CEP290,TMEM67,RPGRIP1L,ARL13B,CC2D2A,OFD1,TMEM138,TCTN3,ZNF423,AMRC9 | | | |
| Juvenile-onset dystonia | ACTB,IMPDH2 | dominant | | |
| Juvenile primary lateral sclerosis (JPLS) | ALS2 | | | |
| Keloid disorder | | | | |
| KIF1A-Associated neurological disorder | KIF1A (2q37.3) | Dominant negative | | |
| Kleefstra syndrome | 9q34 | D | | |
| Kniest dysplasia | COL2A1 | | | 1:1,000,000 |
| Kosaki overgrowth syndrome | PDGFRB | | | |
| Krabbe disease | GALC | | | 1:100,000 |
| Kufor–Rakeb syndrome | ATP13A2 | | | |
| LCAT deficiency | LCAT | | | |
| Lesch–Nyhan syndrome | HPRT (X) | | | 1:380,000 |
| Li–Fraumeni syndrome | TP53 | | | |
| Limb-Girdle Muscular Dystrophy | Multiple | dominant or recessive | [27][28] | 1:14,500-123,000 |
| Lynch syndrome | MSH2,MLH1,MSH6,PMS2,PMS1,TGFBR2,MLH3 | | | 1:279 |
| Lipoprotein lipase deficiency | | recessive | | 1:1,000,000 |
| Malignant hyperthermia | RYR1 (19q13.2) | dominant | | 1:5,000-100,000 |
| Maple syrup urine disease | BCKDHA,BCKDHB,DBT,DLD | recessive | | |
| Marfan syndrome | 15q | dominant | | 1:5,000-10,000 |
| Maroteaux–Lamy syndrome | ARSB | recessive | | 1:43,261-1,505,160 |
| McCune–Albright syndrome | 20 q13.2–13.3 | | | 1:100,000-1,000,000 |
| McLeod syndrome | XK (X) | | | 0.5-1:100,000 |
| MEDNIK syndrome | AP1S1 | D | [29][30] | |
| Mediterranean fever, familial | MEFV | | | |
| Menkes disease | ATP7A (Xq21.1) | | | 1:100,000-250,000 |
| Methemoglobinemia | | | | |
| Methylmalonic acidemia | MMAA,MMAB,MMACHC,MMADHC,LMBRD1,MUT | recessive | | 1:48,000 |
| Micro syndrome | RAB3GAP (2q21.3) | | | |
| Microcephaly | ASPM (1q31) | P | | |
| Miller-Dieker syndrome | 17p13.3 | D | | 1:100,000 |
| Morquio syndrome | GALNS,GLB1 | | | 1:200,000-300,000 |
| Mowat–Wilson syndrome | ZEB2 (2) | | | |
| Muenke syndrome | FGFR3 | | | 1:30,000 |
| Multiple endocrine neoplasia type 1 (Wermer's syndrome) | MEN1 | dominant | | |
| Multiple endocrine neoplasia type 2 | RET | dominant | | |
| Muscular dystrophy | multiple | AR, AD, X-linked | | |
| Muscular dystrophy, Duchenne and Becker type | | | | |
| Myostatin-related muscle hypertrophy | MSTN | | | |
| Myotonic dystrophy | DMPK,CNBP | dominant or T | | 1:8,000 |
| Natowicz syndrome | HYAL1 | | | <1:1,000,000 | |
| Neurofibromatosis type I | 17q11.2 | | | |
| Neurofibromatosis type II | NF2 (22q12.2) | | | |
| Niemann–Pick disease | SMPD1,NPA,NPB,NPC1,NPC2 | | | 1:250,000 (types A and B) 1:150,000 (type C) |
| Nonketotic hyperglycinemia | GLDC,AMT,GCSH | recessive | | 1:60,000 |
| Nonsyndromic deafness | | | | |
| Noonan syndrome | PTPN11,KRAS,SOS1,RAF1,NRAS,HRAS,BRAF,SHOC2,MAP2K1,MAP2K2,CBL | dominant | | 1:1,000 |
| Norman–Roberts syndrome | RELN | recessive | | |
| Ogden syndrome | X | P | | |
| Omenn syndrome | RAG1,RAG2 | recessive | | |
| Osteogenesis imperfecta | COL1A1,COL1A2,IFITM5 | dominant | | 1:15,000-20,000 |
| Ostravik-Lindemann-Solberg syndrome | 2p15 | autosomal recessive | [31] | |
| Pantothenate kinase-associated neurodegeneration | PANK2 (20p13–p12.3) | recessive | | 1-3:1,000,000 |
| Patau syndrome (Trisomy 13) | 13 | trisomy | | |
| PCC deficiency (propionic acidemia) | PC | recessive | | 1:250,000 |
| Porphyria cutanea tarda (PCT) | UROD | dominant | | 1:10,000 |
| Pendred syndrome | PDS (7) | recessive | | |
| Peutz–Jeghers syndrome | STK11 | dominant | | 1:25,000-300,000 |
| Pfeiffer syndrome | FGFR1,FGFR2 | dominant | | 1:100,000 |
| Phelan-McDermid syndrome | 22q13 | D | | |
| Phenylketonuria | PAH | recessive | | 1:12,000 |
| Pipecolic acidemia | AASDHPPT | recessive | | |
| Pitt–Hopkins syndrome | TCF4 (18) | dominant, de novo | | 1:11,000-41,000 |
| Polycystic kidney disease | PKD1 (16) orPKD2 (4) | P | | |
| Polycystic ovary syndrome (PCOS) | | | | |
| Porphyria | | | | 1-100:50,000 |
| Prader–Willi syndrome | 15 | paternal imprinting | | 1:10,000-30,000 |
| Primary ciliary dyskinesia (PCD) | DNAI1,DNAH5,TXNDC3,DNAH11,DNAI2,KTU,RSPH4A,RSPH9,LRRC50 | recessive | | 1:32,000 |
| Primary pulmonary hypertension | | | | |
| Protein C deficiency | PROC | dominant | [32] | 1:20,000 |
| Protein S deficiency | PROS1 | dominant | | |
| Proximal 18q deletion syndrome | 18q | D | | |
| Pseudo-Gaucher disease | | | | |
| Pseudoxanthoma elasticum | ABCC6 | recessive | | 1:25,000 |
| Retinitis pigmentosa | RP1, RP2, RPGR, PRPH2, IMPDH1, PRPF31, CRB1, PRPF8, TULP1, CA4, HPRPF3, ABCA4, EYS, CERKL, FSCN2, TOPORS, SNRNP200, PRCD, NR2E3, MERTK, USH2A, PROM1, KLHL7, CNGB1, TTC8, ARL6, DHDDS, BEST1, LRAT, SPARA7, CRX | dominant or recessive | | 1:4,000 |
| Rett syndrome | MECP2 | dominant, often de novo | | 1:8,500 females |
| Roberts syndrome | ESCO2 | recessive | | |
| Rubinstein–Taybi syndrome (RSTS) | CREBBP | dominant | | 1:125,000-300,000 |
| Sandhoff disease | HEXB | recessive | | |
| Sanfilippo syndrome | SGSH,NAGLU,HGSNAT,GNS | | | 1:70,000 |
| Scheuermann's disease | 1q21-q22 or 7q22 | autosomal dominant | | 1:45 |
| Schwartz–Jampel syndrome | HSPG2 | recessive | | |
| Sjogren-Larsson syndrome | ALDH3A2 | Autosomal-recessive | [1],[2],[3]Archived 2018-01-23 at theWayback Machine | |
| Skin fragility-woolly hair-palmoplantar keratoderma syndrome | DSP | | | |
| Spondyloepiphyseal dysplasia congenita (SED) | COL2A1 | dominant | | |
| Shprintzen–Goldberg syndrome | FBN1 | dominant | | |
| Sickle cell anemia | 11p15 | P | | |
| Siderius X-linked intellectual disability syndrome | PHF8 | X-Linked Recessive | [33] | |
| Sideroblastic anemia | ABCB7,SLC25A38,GLRX5 | recessive | | |
| Sly syndrome | GUSB | recessive | | 1:250,000 |
| Smith–Lemli–Opitz syndrome | DHCR7 | recessive | | 1:20,000-60,000 |
| Smith–Magenis syndrome | 17p11.2 | dominant | | 1:15,000-25,000 |
| Snyder–Robinson syndrome | Xp21.3-p22.12 | recessive | | <1:1,000,000 |
| Spinal muscular atrophy | 5q | | | 1:10,000 |
| Spinocerebellar ataxia (types 1–29) | ATXN1,ATXN2,ATXN3,PLEKHG4,SPTBN2,CACNA1A,ATXN7,ATXN8OS,ATXN10,TTBK2,PPP2R2B,KCNC3,PRKCG,ITPR1,TBP,KCND3,FGF14 | dominant, recessive or T | | |
| Split hand split foot-nystagmus syndrome | | dominant | | |
| SSB syndrome (SADDAN) | FGFR3 | dominant | | |
| Stargardt disease (macular degeneration) | ABCA4,CNGB3,ELOVL4,PROM1 | dominant or recessive | | 1-1.28:10,000 |
| Stickler syndrome (multiple forms) | COL11A1,COL11A2,COL2A1,COL9A1 | dominant or recessive | | 1:7,500-9,000 (U.S.) |
| Strudwick syndrome (spondyloepimetaphyseal dysplasia, Strudwick type) | COL2A1 | dominant | | |
| Tay–Sachs disease | HEXA (15) | recessive | | |
| Tetrahydrobiopterin deficiency | GCH1,PCBD1,PTS,QDPR,MTHFR,DHFR | recessive | | |
| Thanatophoric dysplasia | FGFR3 | dominant | | 1:60,000 |
| Thickened earlobes-conductive deafness syndrome | | | | |
| Treacher Collins syndrome | 5q32–q33.1 (TCOF1,POLR1C, orPOLR1D) | dominant | | 1:50,000 |
| Tuberous sclerosis complex (TSC) | TSC1,TSC2 | dominant | | 7-12:100,000 |
| Turner syndrome | X | monosomy | | 1:2,000-2,500 live female births |
| Usher syndrome | MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1 | recessive | | 3-6:100,000 (type I) |
| Variegate porphyria | PPOX | dominant | | |
| Viljoen-Kallis-Voges syndrome | | recessive | | |
| von Hippel–Lindau disease | VHL | dominant | | 1:36,000 |
| von Willebrand disease | VWF | dominant | | 1:10,000 |
| Waardenburg syndrome | PAX3,MITF,WS2B,WS2C,SNAI2,EDNRB,EDN3,SOX10 | dominant | | 1:42,000 |
| Warkany syndrome 2 | 8 | trisomy | | |
| Weissenbacher–Zweymüller syndrome | COL11A2 | recessive | | |
| Weyer's ulnar ray/oligodactyly syndrome | | recessive | | |
| Williams syndrome | 7q11.23 | dominant | | 1:10,000 |
| Wilson disease | ATP7B | recessive | | 1:30,000 |
| Woodhouse–Sakati syndrome | C2ORF37 (2q22.3–q35) | recessive | | |
| Wolf–Hirschhorn syndrome | 4p16.3 | dominant, often de novo | | 1:50,000 |
| Xeroderma pigmentosum | 15ERCC4 | recessive | | |
| X-linked intellectual disability and macroorchidism (fragile X syndrome) | X | | | |
| X-linked spinal-bulbar muscle atrophy (spinal and bulbar muscular atrophy) | X | | | |
| Xp11.2 duplication syndrome | Xp11.2 | D | [34] | 1:1,000,000 |
| X-linked severe combined immunodeficiency (X-SCID) | X | | | |
| X-linked sideroblastic anemia (XLSA) | ALAS2 (X) | | | |
| 47,XXX (triple X syndrome) | X | C | | 1:1,000 females |
| XXXX syndrome (48, XXXX) | X | | | 1:50,000 females |
| XXXXX syndrome (49,XXXXX) | X | | | 1:85,000-250,000 females |
| XXXXY syndrome (49,XXXXY) | X | | | 1:85,000-100,000 males |
| XYY syndrome (47,XYY) | Y | | | 1:1,000 male births |
| XXYY syndrome (48,XXYY) | X, Y | | | 1:18,000-40,000 males |
| XYYY syndrome (48,XYYY) | Y | | [35] | <1:1,000,000 males |
| XXXY syndrome (48,XXXY) | X | | [36] | 1:17,000-50,000 males |
| XYYYY syndrome (49,XYYYY) | Y | | | <1:1,000,000 males |
| Zellweger syndrome | PEX1,PEX2,PEX3,PEX5,PEX6,PEX10,PEX12,PEX13,PEX14,PEX16,PEX19,PEX26 | recessive | [37] | 1:50,000-75,000 |
