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List of genetic disorders

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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.

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).
Further information: Karyotype
Duchenne muscular dystrophy
Craniosynostosis can be found in several disorders, like Carpenter Syndrome
More information Disorder, Chromosome ...
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
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Full genetic disorders list

More information Disorder, Chromosome or gene ...
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
16p11.2 deletion syndrome 16p11.2 D 1:2,000-1:5,000
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
AchondroplasiaFGFR3 (4p16.3)dominant 1:27,500
Acute intermittent porphyriaHMBSdominant and recessive forms 1:500-50,000
Adenylosuccinate lyase deficiencyADSL recessive
AdrenoleukodystrophyABCD1 (X)recessive 1:17,000
Alagille syndromeJAG1, NOTCH2 dominant [7] 1:30,000-50,000
ADULT syndrome TP63 dominant
Aicardi–Goutières syndromeTREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1 1:19,500,000
Albinism 1:18,000-20,000
Alexander diseaseGFAP 1:15,600,000
Alfi's syndrome 9p monosomy 1:50,000
AlkaptonuriaHGD 1:250,000-1,000,000
Alport syndrome10q26.13 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 dementiaC9orf72, SOD1, FUS, TARDBP, CHCHD10, MAPT 1:100,000
Angel-shaped phalango-epiphyseal dysplasia GDF5 dominant
Alström syndromeALMS1 1:8,600,000
Alzheimer's diseasePSEN1, 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 syndromeUBE3A 1:12,000-20,000
Aphalangy-syndactyly-microcephaly syndrome dominant
Apert syndrome FGFR2 1:65,000-80,000
Arthrogryposis–renal dysfunction–cholestasis syndromeVPS33B 1:78,000,000
Arboleda-Tham Syndrome KAT6A(8p11.21) Dominant
Ataxia telangiectasiaATM 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 syndrome10q26, FGFR2 1:390,000,000
Beckwith–Wiedemann syndrome IGF-2, CDKN1C, H19, KCNQ1OT1 1:15,000
Benjamin syndrome 1:20,000,000
biotinidase deficiencyBTD 1:110,000,000
Björnstad syndrome BCS1L 1:260,000,000
Blepharophimosis intellectual disability syndromes
Bloom syndrome15q26.1 1:480,000
Birt–Hogg–Dubé syndrome17 FLCN 1:19,500,000
Brody myopathy ATP2A1 1:10,000,000
Brunner syndrome MAOA 1:500,000,000
CADASIL syndromeNOTCH3P 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 dysplasiaX 17q24.3–q25.1C 1:40,000-200,000
Camptodactyly-taurinuria syndrome dominant
Canavan diseaseASPA 1:6,400-13,500
Carpenter syndrome RAB23 1:1,000,000
CDKL5 deficiency disorder CDKL5 [9] 1:40,000-60,000[9]
Central diabetes insipidusAVP, PCSK1autosomal dominant, autosomal recessive, X-linked dominant 1:25,000
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 fibrosisCFTR (7q31.2)D or S [13] 1:100,000
Charcot–Marie–Tooth diseasePMP22, MFN2 1:2,500
CHARGE syndromeCHD7 1:8,500-10,000
Chédiak–Higashi syndromeLYSTrecessive 1:39,000,000
Chondrodysplasia, Grebe type GDF5 autosomal recessive [14]
Cleidocranial dysostosis RUNX2 1:7,800
Cockayne syndromeERCC6, ERCC8 1:2,600-3,900
Coffin–Lowry syndromeX RPS6KA3 1:40,000-50,000
Cohen syndromeCOH1 1:7,800,000
Collagenopathy, types II and XICOL11A1, 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 syndromePTEN 1:200,000
CPO deficiency (coproporphyria)CPOX
Cranio-lenticulo-sutural dysplasia14q13–q21
Cri du chat5p15.2D [17][18] 1:37,000-50,000
Crohn's disease16q12P
Crouzon syndromeFGFR2, 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 syndrome18qD
DHX30 syndrome 3 dominant
Dolichonychia
Down syndrome 21 C 1:1,000-1,100
1:1,200 (U.S.)
DiGeorge syndrome22q11.2D 1:4,000
Distal hereditary motor neuropathies, multiple typesHSPB8, 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 syndromeSCN1A, SCN2A 1:20,000-40,000
Ectrodactyly-polydactyly syndrome
Edwards syndrome 18 trisomy 1:5,000
Ehlers–Danlos syndromeCOL1A1, 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 diseaseGLA (Xq22.1)P 1:117,000-476,000
Factor V Leiden thrombophilia
Fatal familial insomnia PRNP dominant
Familial adenomatous polyposisAPC 1:10,000-15,000
Familial dysautonomiaIKBKAP
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 syndromeMED12
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 ataxiaFXNT 1:50,000 (U.S.)
G6PD deficiencyX-linked recessive [23]
GalactosemiaGALT, GALK1, GALE
Gaucher diseaseGBA (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 syndromeMYO5A, RAB27A, MLPH
Gustavson syndrome
Hailey–Hailey disease ATP2C1 (3)
Harlequin type ichthyosisABCA12
Hemochromatosis type 1HFE (chromosome 6)recessive1:200 (Northern Europe), 1:300 (Northern America)
Hemochromatosis type 2AHJV (or HFE2A) (chromosome 1)recessive
Hemochromatosis type 2BHAMP (or HFE2B) (chromosome 19)recessive
Haemochromatosis type 3TFR2 (or HFE3) (chromosome 7)recessive
Hemochromatosis type 4SLC40A1 (or HFE4) (chromosome 2)dominant
Hemochromatosis type 5FTH1 (chromosome 11)dominant
HemophiliaFVIII 1:7,500 males (hemophilia A)

1:40,000 males (hemophilia B)

Hepatoerythropoietic porphyriaUROD
Hereditary coproporphyria3q12P
Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome)ENG, ACVRL1, MADH4 1:5,000 [24]
Hereditary inclusion body myopathyGNE, MYHC2A, VCP, HNRPA2B1, HNRNPA1
Hereditary multiple exostosesEXT1, 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 syndromeHPS1, 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
HomocystinuriaCBS (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 syndromeLMNA 1:18,000,000
Hyperlysinemia AASS recessive
Hyperoxaluria, primaryAGXT, GRHPR, DHDPSL
Hyperphenylalaninemia12q
Hypoalphalipoproteinemia (Tangier disease) ABCA1
HypochondrogenesisCOL2A1
Hypochondroplasia FGFR3 (4p16.3)
Immunodeficiency–centromeric instability–facial anomalies syndrome (ICF syndrome)20q11.2
Incontinentia pigmentiIKBKG (Xq28)P
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly MED17 recessive
Ischiopatellar dysplasiaTBX4dominant
Isodicentric 1515q11–14Inv dup 1:30,000 [26]
PRICKLE1-related progressive myoclonus epilepsy with ataxia PRICKLE1 dominant or recessive
Jackson–Weiss syndromeFGFR2
Jacobsen syndrome 11 1:100,000
Joubert syndromeINPP5E, 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 dysplasiaCOL2A1 1:1,000,000
Kosaki overgrowth syndromePDGFRB
Krabbe diseaseGALC 1:100,000
Kufor–Rakeb syndrome ATP13A2
LCAT deficiency LCAT
Lesch–Nyhan syndromeHPRT (X) 1:380,000
Li–Fraumeni syndromeTP53
Limb-Girdle Muscular Dystrophy Multiple dominant or recessive [27][28] 1:14,500-123,000
Lynch syndromeMSH2, MLH1, MSH6, PMS2, PMS1, TGFBR2, MLH3 1:279
Lipoprotein lipase deficiencyrecessive 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 syndrome15qdominant 1:5,000-10,000
Maroteaux–Lamy syndrome ARSB recessive 1:43,261-1,505,160
McCune–Albright syndrome20 q13.2–13.3 1:100,000-1,000,000
McLeod syndromeXK (X) 0.5-1:100,000
MEDNIK syndromeAP1S1D [29][30]
Mediterranean fever, familialMEFV
Menkes diseaseATP7A (Xq21.1) 1:100,000-250,000
Methemoglobinemia
Methylmalonic acidemiaMMAA, MMAB, MMACHC, MMADHC, LMBRD1, MUT recessive 1:48,000
Micro syndromeRAB3GAP (2q21.3)
MicrocephalyASPM (1q31)P
Miller-Dieker syndrome 17p13.3 D 1:100,000
Morquio syndromeGALNS, GLB1 1:200,000-300,000
Mowat–Wilson syndromeZEB2 (2)
Muenke syndromeFGFR3 1:30,000
Multiple endocrine neoplasia type 1 (Wermer's syndrome)MEN1dominant
Multiple endocrine neoplasia type 2 RET dominant
Muscular dystrophymultiple AR, AD, X-linked
Muscular dystrophy, Duchenne and Becker type
Myostatin-related muscle hypertrophyMSTN
Myotonic dystrophyDMPK, CNBPdominant or T 1:8,000
Natowicz syndrome HYAL1 <1:1,000,000
Nephrogenic diabetes insipidusAVPR2, AQP2autosomal dominant, autosomal recessive, X-linked recessive 1:25,000
Neurofibromatosis type I17q11.2
Neurofibromatosis type IINF2 (22q12.2)
Niemann–Pick diseaseSMPD1, NPA, NPB, NPC1, NPC2 1:250,000 (types A and B)

1:150,000 (type C)

Nonketotic hyperglycinemiaGLDC, AMT, GCSH recessive 1:60,000
Nonsyndromic deafness
Noonan syndromePTPN11, KRAS, SOS1, RAF1, NRAS, HRAS, BRAF, SHOC2, MAP2K1, MAP2K2, CBLdominant 1:1,000
Norman–Roberts syndrome RELN recessive
Ogden syndrome X P
Omenn syndrome RAG1, RAG2 recessive
Osteogenesis imperfectaCOL1A1, COL1A2, IFITM5 dominant 1:15,000-20,000
Ostravik-Lindemann-Solberg syndrome 2p15 autosomal recessive [31]
Pantothenate kinase-associated neurodegenerationPANK2 (20p13–p12.3)recessive 1-3:1,000,000
Patau syndrome (Trisomy 13)13trisomy
PCC deficiency (propionic acidemia)PCrecessive 1:250,000
Porphyria cutanea tarda (PCT)URODdominant 1:10,000
Pendred syndromePDS (7)recessive
Peutz–Jeghers syndromeSTK11 dominant 1:25,000-300,000
Pfeiffer syndromeFGFR1, FGFR2dominant 1:100,000
Phelan-McDermid syndrome 22q13 D
PhenylketonuriaPAHrecessive 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 syndrome15paternal 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 deficiencyPROC dominant [32] 1:20,000
Protein S deficiencyPROS1 dominant
Proximal 18q deletion syndrome 18q D
Pseudo-Gaucher disease
Pseudoxanthoma elasticumABCC6 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 syndromeMECP2 dominant, often de novo 1:8,500 females
Roberts syndrome ESCO2 recessive
Rubinstein–Taybi syndrome (RSTS)CREBBP dominant 1:125,000-300,000
Sandhoff diseaseHEXBrecessive
Sanfilippo syndrome SGSH, NAGLU, HGSNAT, GNS 1:70,000
Scheuermann's disease 1q21-q22 or 7q22 autosomal dominant 1:45
Schwartz–Jampel syndromeHSPG2 recessive
Shprintzen–Goldberg syndromeFBN1dominant
Sickle cell anemia11p15P
Siderius X-linked intellectual disability syndromePHF8X-Linked Recessive

[33]
Sideroblastic anemia ABCB7, SLC25A38, GLRX5 recessive
Sjogren-Larsson syndrome ALDH3A2 Autosomal-recessive , , Archived 2018-01-23 at the Wayback Machine
Skin fragility-woolly hair-palmoplantar keratoderma syndrome DSP
Sly syndrome GUSB recessive 1:250,000
Smith–Lemli–Opitz syndromeDHCR7 recessive 1:20,000-60,000
Smith–Magenis syndrome17p11.2 dominant 1:15,000-25,000
Snyder–Robinson syndromeXp21.3-p22.12 recessive <1:1,000,000
Sphingosine phosphate lyase insufficiency syndrome10q22.1 Autosomal-recessive [34][35][36] <1:6,000,000
Spinal muscular atrophy5q 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
Spondyloepiphyseal dysplasia congenita (SED)COL2A1 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, COL9A1dominant or recessive 1:7,500-9,000 (U.S.)
Strudwick syndrome (spondyloepimetaphyseal dysplasia, Strudwick type)COL2A1dominant
Tay–Sachs diseaseHEXA (15)recessive
Tetrahydrobiopterin deficiencyGCH1, PCBD1, PTS, QDPR, MTHFR, DHFR recessive
Thanatophoric dysplasiaFGFR3dominant 1:60,000
Thickened earlobes-conductive deafness syndrome
Treacher Collins syndrome5q32–q33.1 (TCOF1, POLR1C, or POLR1D)dominant 1:50,000
Tuberous sclerosis complex (TSC) TSC1, TSC2 dominant 7-12:100,000
Turner syndromeXmonosomy 1:2,000-2,500 live female births
Usher syndromeMYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1recessive 3-6:100,000 (type I)
Variegate porphyriaPPOXdominant
Viljoen-Kallis-Voges syndrome recessive
von Hippel–Lindau diseaseVHL dominant 1:36,000
von Willebrand diseaseVWFdominant 1:10,000
Waardenburg syndromePAX3, MITF, WS2B, WS2C, SNAI2, EDNRB, EDN3, SOX10 dominant 1:42,000
Warkany syndrome 2 8 trisomy
Weiss-Kruszka syndrome ZNF462 (9q31.2) autosomal dominant [37]
Weissenbacher–Zweymüller syndromeCOL11A2recessive
Weyer's ulnar ray/oligodactyly syndrome recessive
Williams syndrome7q11.23dominant 1:10,000
Wilson diseaseATP7Brecessive 1:30,000
Woodhouse–Sakati syndrome C2ORF37 (2q22.3–q35)recessive
Wolf–Hirschhorn syndrome4p16.3dominant, often de novo 1:50,000
Xeroderma pigmentosum15 ERCC4recessive
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 Xp11.2D

[38]

 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 [39] <1:1,000,000 males
XXXY syndrome (48,XXXY) X [40] 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 [41] 1:50,000-75,000
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