List of genetic disorders

Short description: None

The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.

## Contents

* 1 Most common
* 2 Full genetic disorders list
* 3 References
* 4 Further reading

## Most common

Human karyotype with annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities. It shows dark and white regions as seen on G banding. Each row is vertically aligned at centromere level. It shows 22 homologous autosomal chromosome pairs, both the female (XX) and male (XY) versions of the two sex chromosomes, as well as the mitochondrial genome (at bottom left).  Duchenne muscular dystrophy

* P – Point mutation, or any insertion/deletion entirely inside one gene
* D – Deletion of a gene or genes
* Dup - Duplication of a gene or genes
* C – Whole chromosome extra, missing, or both (see chromosome abnormality)
* T – Trinucleotide repeat disorders: gene is extended in length

Craniosynostosis can be found in several disorders, like Carpenter Syndrome Disorder  | Chromosome  | Mutation

|
|

Angelman syndrome | 15q  | DCP
Canavan disease | 17p  |
Charcot–Marie–Tooth disease | 17p12[1] | Dup
Color blindness | X  | P
Cri du chat syndrome | 5  | D
Cystic fibrosis | 7q  | P
DiGeorge syndrome | 22q  | D
Down syndrome | 21  | C
Duchenne muscular dystrophy | Xp  | D
Familial hypercholesterolemia  | 19  | P
Haemochromatosis type 1 | 6  | P
Hemophilia  | X  | P
Klinefelter syndrome | X  | C
Neurofibromatosis | 17q/22q/?  |
Phenylketonuria | 12q  | P
Polycystic kidney disease | 16 (PKD1) or 4 (PKD2)  | P
Prader–Willi syndrome | 15q  | DCP
Scheuermann's disease  | 1q21-q22 or 7q22  |
Sickle cell disease | 11p  | P
Spinal muscular atrophy | 5q  | DP
Tay–Sachs disease | 15q  | P
Trisomy X | X  | C
Turner syndrome | X  | C

## Full genetic disorders list

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 | 10q26.13 COL4A3, COL4A4, and COL4A5 |  |  | 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 | 17 FLCN |  |  | 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 | X RPS6KA3 |  |  | 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) | Xp11.22 CLCN5, 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 and type 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) 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  | [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] |
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, or POLR1D) | 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 | 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  |

[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

## References

1. ↑ "OMIM Entry - # 118220 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A". https://www.omim.org/entry/118220?search=charcot-marie-tooth disease&highlight="charcot marie tooth" charcotmarietooth disease.
2. ↑ "5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination". Molecular Genetics and Metabolism 125 (1–2): 118–126. September 2018. doi:10.1016/j.ymgme.2018.06.006. PMID 30031689.
3. ↑ "17q12 Recurrent Deletion Syndrome". GeneReviews®. Seattle (WA): University of Washington, Seattle. 1993. https://www.ncbi.nlm.nih.gov/books/NBK401562/. Retrieved 2021-02-16.
4. ↑ "17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5". The Journal of Clinical Endocrinology and Metabolism 103 (10): 3601–3610. October 2018. doi:10.1210/jc.2018-00955. PMID 30032214.
5. ↑ "Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities". Molecular Cytogenetics 12 (1): 19. 2019-05-17. doi:10.1186/s13039-019-0431-7. PMID 31131025.
6. ↑ "Allgrove (AAA) Syndrome". https://emedicine.medscape.com/article/919360-overview#:~:text=Allgrove syndrome, or AAA syndrome,of 1 per 1,000,000 individuals..
7. ↑ "Orphanet: Alagille syndrome" (in en). https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=253&Disease_Disease_Search_diseaseGroup=alagille-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group of diseases=Alagille-syndrome&title=Alagille syndrome&search=Disease_Search_Simple.
8. ↑ "Online Mendelian Inheritance in Man (OMIM)". 2024-08-11. https://omim.org/entry/610474.
9. ↑ 9.0 9.1 "CDKL5 deficiency disorder". https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder/.
10. ↑ "Orphanet: CEDNIK syndrome". https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66631.
11. ↑ 11.0 11.1 NIH Intramural Sequencing Center Group; Sloan, Jennifer L; Johnston, Jennifer J; Manoli, Irini; Chandler, Randy J; Krause, Caitlin; Carrillo-Carrasco, Nuria; Chandrasekaran, Suma D et al. (2011). "Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria" (in en). Nature Genetics 43 (9): 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMID 21841779.
12. ↑ Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N.; Ha, K. C. H.; Majewski, J. et al. (2011). "Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype" (in en). Journal of Medical Genetics 48 (9): 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593. PMID 21785126.
13. ↑ "FBR Model for Genetic Tests|ACCE|Genetic Testing|Genomics|CDC". https://www.cdc.gov/genomics/gtesting/ACCE/FBR/.
14. ↑ "A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type". Human Genetics 81 (4): 323–8. March 1989. doi:10.1007/BF00283684. PMID 2703235.
15. ↑ "Orphanet: Congenital muscular dystrophy" (in en). https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12865&Disease_Disease_Search_diseaseGroup=congenital-muscular-dystrophy&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group of diseases=Congenital-muscular-dystrophy&title=Congenital muscular dystrophy&search=Disease_Search_Simple.
16. ↑ "Corneal dystrophy and perceptive deafness - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/1529/corneal-dystrophy-and-perceptive-deafness.
17. ↑ "History and Prevalence of Cri du Chat Syndrome". https://www.findresources.co.uk/the-syndromes/cri-du-chat/history.
18. ↑ "OMIM Entry - # 123450 - Cri-Du-Chat Syndrome". https://www.omim.org/entry/123450?search=Cri du chat syndrome&highlight=(syndrome|syndromic) chat cri du.
19. ↑ "Distal Myopathies - Types of Distal MD" (in en). 2015-12-18. https://www.mda.org/disease/distal-myopathies/types.
20. ↑ "OMIM Entry - # 310200 - MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD" (in en-us). https://omim.org/entry/310200?search=duchenne muscular dystrophy&highlight=duchenne "duchenne muscular dystrophy" muscular dystrophy.
21. ↑ "Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa". Matrix Biology 57-58: 76–85. January 2017. doi:10.1016/j.matbio.2016.07.009. PMID 27496350.
22. ↑ "Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry". JAMA Dermatology 152 (11): 1231–1238. November 2016. doi:10.1001/jamadermatol.2016.2473. PMID 27463098.
23. ↑ "Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency" (in en-us). https://www.msdmanuals.com/professional/hematology-and-oncology/anemias-caused-by-hemolysis/glucose-6-phosphate-dehydrogenase-g6pd-deficiency.
24. ↑ "Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia". Annals of Internal Medicine 173 (12): 989–1001. December 2020. doi:10.7326/M20-1443. PMID 32894695.
25. ↑ "OMIM Entry – # 236200 – Homocystinuria Due to Cystathionine Beta-Synthase Deficiency". https://omim.org/entry/236200.
26. ↑ Schinzel, Albert; Niedrist, Dunja (2001). "Chromosome imbalances associated with epilepsy". American Journal of Medical Genetics 106 (2): 119–124. doi:10.1002/ajmg.1576. PMID 11579431. https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.1576.
27. ↑ "Orphanet: Autosomal recessive limb girdle muscular dystrophy" (in en). https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=14951&Disease_Disease_Search_diseaseGroup=limb-girdle-muscular-dystrophy&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group of diseases=Autosomal-recessive-limb-girdle-muscular-dystrophy&title=Autosomal recessive limb-girdle muscular dystrophy&search=Disease_Search_Simple.
28. ↑ "Orphanet: Autosomal dominant limb girdle muscular dystrophy" (in en). https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=14950&Disease_Disease_Search_diseaseGroup=limb-girdle-muscular-dystrophy&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group of diseases=Autosomal-dominant-limb-girdle-muscular-dystrophy&title=Autosomal dominant limb-girdle muscular dystrophy&search=Disease_Search_Simple.
29. ↑ "'MEDNIK': A novel genetic syndrome" (in en). http://www.eurekalert.org/pub_releases/2008-12/plos-an120308.php.
30. ↑ "Hereditary disorder found in Que. families". CTV News. 4 December 2008. https://www.ctvnews.ca/hereditary-disorder-found-in-que-families-1.348608.
31. ↑ "OMIM Entry - # 217085 - CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY; CHDTHP" (in en-us). https://omim.org/entry/217085.
32. ↑ "OMIM Entry – # 176860 – Thrombophilia Due to Protein C Deficiency, Autosomal Dominant; THPH3". https://omim.org/entry/176860.
33. ↑ "OMIM Entry - # 300263 - SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD". https://omim.org/entry/300263.
34. ↑ "OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME". https://omim.org/entry/300705?search=xp11.22&highlight=xp1122 xp11.
35. ↑ https://www.orpha.net/en/disease/detail/99329
36. ↑ https://www.rarediseasesnetwork.org/diseases/719/xxxy-syndrome
37. ↑ https://my.clevelandclinic.org/health/diseases/6116-zellweger-syndrome

## Further reading

* "Specific Genetic Disorders". genome.gov. https://www.genome.gov/10001204/specific-genetic-disorders/.
* "Congenital and Genetic Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" (in en). NIH.gov. https://rarediseases.info.nih.gov/diseases/diseases-by-category/5/congenital-and-genetic-diseases.
* "Color Vision deficiency | Genetics Home Reference". https://medlineplus.gov/genetics/condition/color-vision-deficiency/.

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