Disorder | Chromosome or gene | Type | Reference | Prevalence |
---|
1p36 deletion syndrome | 1 | D | | data-sort-value="7500" | 1:7,500 |
1q21.1 deletion syndrome | 1q21.1 | D | | |
2q37 deletion syndrome | 2q37 | D | | |
5q deletion syndrome | 5q | D | | |
5,10-methenyltetrahydrofolate synthetase deficiency | MTHFS | | [2] | |
7p22.1 microduplication syndrome | 7p22.1 | | | |
17q12 microdeletion syndrome | 17q12 | | [3] [4] | data-sort-value="14000" | 1:14,000-62,500 |
17q12 microduplication syndrome | 17q12 | | [5] | |
18p deletion syndrome | 18p | D | | data-sort-value="50000" | 1:50,000 |
21-hydroxylase deficiency | 6p21.3 | recessive | | data-sort-value="15000" | 1:15,000 |
Alpha 1-antitrypsin deficiency | 14q32 | co-dominant, | | data-sort-value="2500" | 1:2,500-5,000 |
AAA syndrome (achalasia–addisonianism–alacrima syndrome) | AAAS | recessive | [6] | data-sort-value="100000" | 1:1,000,000 |
Aarskog–Scott syndrome | FGD1 | X-linked recessive | | data-sort-value="25000" | 1:25,000 |
ABCD syndrome | EDNRB | recessive | | data-sort-value="18000" | 1:18,000-20,000 |
Absence deformity of leg-cataract syndrome | | | | |
Aceruloplasminemia | CP (3p26.3) | recessive | | data-sort-value="2000000" | 1:2,000,000 |
Acheiropodia | LMBR1 | recessive | | |
Achondrogenesis type II | COL2A1 (12q13.11) | dominant | | data-sort-value="40000" | 1:40,000-60,000 |
| FGFR3 (4p16.3) | dominant | | data-sort-value="27,500" | 1:27,500 |
| HMBS | dominant and recessive forms | | data-sort-value="500" | 1:500-50,000 |
| ADSL | recessive | | |
| ABCD1 (X) | recessive | | data-sort-value="17000" | 1:17,000 |
| JAG1, NOTCH2 | dominant | [7] | data-sort-value="30000" | 1:30,000-50,000 |
ADULT syndrome | TP63 | dominant | | |
Aicardi–Goutières syndrome | TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1 | recessive | | | data-sort-value="19500000" | 1:19,500,000 |
| | | | data-sort-value="18000" | 1:18,000-20,000 |
| GFAP | dominant | | | data-sort-value="15600000" | 1:15,600,000 |
Alfi's syndrome | 9p | monosomy | | 1:50,000 |
| HGD | recessive | | | data-sort-value="250000" | 1:250,000-1,000,000 |
| 10q26.13 COL4A3, COL4A4, and COL4A5 | | | data-sort-value="5000" | 1:5,000-10,000 |
Alternating hemiplegia of childhood | ATP1A3 | | | data-sort-value="1000000" | 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 | | | data-sort-value="100000" | 1:100,000 |
Angel-shaped phalango-epiphyseal dysplasia | GDF5 | dominant | | |
| ALMS1 | | | data-sort-value="8600000" | 1:8,600,000 |
| PSEN1, PSEN2, APP, APOEε4 | | | data-sort-value="177" | 1:177 |
| | | | data-sort-value="14000" | 1:14,000 |
Aminolevulinic acid dehydratase deficiency porphyria | ALAD | | | data-sort-value="780000000" | 1:780,000,000 |
| | | | data-sort-value="20000" | 1:20,000-50,000 |
| UBE3A | | | data-sort-value="12000" | 1:12,000-20,000 |
Aphalangy-syndactyly-microcephaly syndrome | | dominant | | |
Apert syndrome | FGFR2 | | | data-sort-value="65000" | 1:65,000-80,000 |
| VPS33B | | | data-sort-value="78000000" | 1:78,000,000 |
| ATM | | | data-sort-value="40000" | 1:40,000-1,000,000 |
Axenfeld syndrome | PITX2, FOXO1A, FOXC1, PAX6 | | | data-sort-value="200000" | 1:200,000 |
Bainbridge–Ropers syndrome | | de novo | | |
| 10q26, FGFR2 | | | data-sort-value="390000000" | 1:390,000,000 |
Beckwith–Wiedemann syndrome | IGF-2, CDKN1C, H19, KCNQ1OT1 | | | data-sort-value="15000" | 1:15,000 |
| | | | data-sort-value="20000000" | 1:20,000,000 |
| BTD | | | data-sort-value="110000000" | 1:110,000,000 |
Björnstad syndrome | BCS1L | | | data-sort-value="260000000" | 1:260,000,000 |
Blepharophimosis intellectual disability syndromes | | | | |
| 15q26.1 | | | data-sort-value="480000" | 1:480,000 |
| 17 FLCN | | | data-sort-value="19500000" | 1:19,500,000 |
Brody myopathy | ATP2A1 | | | data-sort-value="10000000" | 1:10,000,000 |
Brunner syndrome | MAOA | | | data-sort-value="500000000" | 1:500,000,000 |
| NOTCH3 | P | | data-sort-value="156000000" | 1:156,000,000 |
Cat eye syndrome | 22 | | | 1:74,000 | |
CATSHL syndrome | FGFR3 | dominant/recessive | [8] | | |
CRASIL syndrome | HTRA1 | | | data-sort-value="156000000" | 1:156,000,000 |
| | | | data-sort-value="200000" | 1:200,000 |
| X 17q24.3–q25.1 | C | | data-sort-value="40000" | 1:40,000-200,000 |
Camptodactyly-taurinuria syndrome | | dominant | | |
| ASPA | | | data-sort-value="6400" | 1:6,400-13,500 |
Carpenter syndrome | RAB23 | | | data-sort-value="1000000" | 1:1,000,000 |
CDKL5 deficiency disorder | CDKL5 | | [9] | data-sort-value="40000" | 1:40,000-60,000 |
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (CEDNIK) | SNAP29 | | | data-sort-value="1000000" | <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 |
Combined malonic and methylmalonic aciduria (CMAMMA) | MLYCD | recessive | | |
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome | | recessive | | |
| CFTR (7q31.2) | D or S | [13] | data-sort-value="100000" | 1:100,000 |
| PMP22, MFN2 | | | data-sort-value="2500" | 1:2,500 |
| CHD7 | | | data-sort-value="8500" | 1:8,500-10,000 |
| LYST | recessive | | data-sort-value="39000000" | 1:39,000,000 |
Chondrodysplasia, Grebe type | GDF5 | autosomal recessive | [14] | |
Cleidocranial dysostosis | RUNX2 | | | data-sort-value="7800" | 1:7,800 |
| ERCC6, ERCC8 | | | data-sort-value="2600" | 1:2,600-3,900 |
| X RPS6KA3 | | | data-sort-value="40000" | 1:40,000-50,000 |
| COH1 | | | data-sort-value="7800000" | 1:7,800,000 |
| 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] | data-sort-value="50000" | 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) | Xp11.22 CLCN5, OCRL | | | |
Denys–Drash syndrome | WT1 | | | |
De Grouchy syndrome | 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] | data-sort-value="90000" | 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 | | | |
| | | | |
Fibular aplasia-ectrodactyly syndrome | | dominant | | |
Fine-Lubinsky syndrome | MAF | recessive | | |
Fragile X syndrome | FMR1 | T | | 1:4,000 males1:8,000 females |
Friedreich's ataxia | FXN | T | | 1:50,000 (U.S.) |
G6PD deficiency | | | | |
Galactosemia | GALT, GALK1, GALE | | | |
Gaucher disease | GBA (1) | | | 1:20,000 |
Gerstmann–Sträussler–Scheinker syndrome | PRNP | dominant | | |
Gillespie syndrome | PAX6 | | | |
Glutaric aciduria, type I and type 2 | GCDH, ETFA, ETFB, ETFDH | recessive | | |
GRACILE syndrome | BCS1L | | | |
GRIN2B-related neurodevelopmental disorder | | | | |
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 | | | data-sort-value="5000" | 1:5,000 [23] |
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 | [24] | |
Huntington's disease | chromosome 4 HTT gene | | | data-sort-value="10000" | 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 | | data-sort-value="30000" | 1:30,000 [25] |
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 | [26] [27] | 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 | [28] [29] | |
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 | [30] | |
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) or PKD2 (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 | [31] | 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 | https://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome, https://onlinelibrary.wiley.com/doi/abs/10.1002/%28SICI%291098-1004%281998%2912%3A6%3C377%3A%3AAID-HUMU3%3E3.0.CO%3B2-I,https://www.socialstyrelsen.se/ovanligadiagnoser/sjogren-larssonssyndrom | |
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 mental retardation syndrome | PHF8 | X-Linked Recessive | [32] | |
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, or POLR1D) | dominant | | 1:50,000 |
Tuberous sclerosis complex (TSC) | TSC1, TSC2 | dominant | | 7-12:100,000 |
Turner syndrome | X | monosomy | | data-sort-value="2000" | 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 | | data-sort-value="10000" | 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 | 15 ERCC4 | 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 | [33] | data-sort-value="1000000" | 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 | | | |
XXXY syndrome (48,XXXY) | X | | | 1:50,000 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 | | | |