List_of_genetic_disorders

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.

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This article uses material from the Wikipedia article List_of_genetic_disorders, and is written by contributors. Text is available under a CC BY-SA 4.0 International License; additional terms may apply. Images, videos and audio are available under their respective licenses.

[1] [1]
"OMIM Entry - # 118220 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A".

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"Orphanet: Alagille syndrome". www.orpha.net. Retrieved 2019-04-16.

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"CDKL5 deficiency disorder". MedlinePlus. Retrieved 7 June 2021.

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"Orphanet: CEDNIK syndrome". Retrieved 8 May 2021.

[:0-10] [10]
NIH Intramural Sequencing Center Group; Sloan, Jennifer L; Johnston, Jennifer J; Manoli, Irini; Chandler, Randy J; Krause, Caitlin; Carrillo-Carrasco, Nuria; Chandrasekaran, Suma D; Sysol, Justin R; O'Brien, Kevin; Hauser, Natalie S; Sapp, Julie C; Dorward, Heidi M; Huizing, Marjan; Barshop, Bruce A (2011). "Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria". Nature Genetics. 43 (9): 883–886. doi:10.1038/ng.908. ISSN 1061-4036. PMC 3163731. PMID 21841779.

[11] [11]
Alfares, A.; Nunez, L. D.; Al-Thihli, K.; Mitchell, J.; Melancon, S.; Anastasio, N.; Ha, K. C. H.; Majewski, J.; Rosenblatt, D. S.; Braverman, N. (2011). "Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype". Journal of Medical Genetics. 48 (9): 602–605. doi:10.1136/jmedgenet-2011-100230. ISSN 0022-2593. PMID 21785126. S2CID 19352176.

[FBR-12] [12]
"FBR Model for Genetic Tests|ACCE|Genetic Testing|Genomics|CDC". www.cdc.gov. Retrieved 2017-10-24.

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"Orphanet: Congenital muscular dystrophy". www.orpha.net. Retrieved 2019-04-16.

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"Corneal dystrophy and perceptive deafness - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on 2022-08-03. Retrieved 2022-08-03.

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"History and Prevalence of Cri du Chat Syndrome". findresources. Retrieved 15 June 2020.

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"OMIM Entry - # 123450 - Cri-Du-Chat Syndrome".

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"Distal Myopathies - Types of Distal MD". Muscular Dystrophy Association. 2015-12-18. Retrieved 2019-04-16.

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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
Turner syndrome	X	C

List_of_genetic_disorders

List of genetic disorders

Most common

Full genetic disorders list

References

Further reading

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Disorder	Chromosome or gene	Type	Reference	Prevalence
1p36 deletion syndrome	1	D		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]	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
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
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		^[8]	1:40,000-60,000^[8]
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (CEDNIK)	SNAP29			<1:1,000,000^[9]
Cleft palate short stature vertebral anomalies syndrome
Combined malonic and methylmalonic aciduria (CMAMMA)	ACSF3	recessive	^[10]^[11]	1:30,000^[10]
Combined malonic and methylmalonic aciduria (CMAMMA)	MLYCD	recessive
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome		recessive
Cystic fibrosis	CFTR (7q31.2)	D or S	^[12]	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	^[13]
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	^[14]
Corneal dystrophy-perceptive deafness syndrome	SLC4A11	autosomal recessive	^[15]
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	^[16]^[17]	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	^[18]
Duchenne muscular dystrophy	Dystrophin	X-linked recessive	^[19]
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	^[20]^[21]	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
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 ^[22]
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	^[23]
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 ^[24]
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	^[25]^[26]	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	^[27]^[28]
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	^[29]
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	^[30]	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	, , Archived 2018-01-23 at the Wayback 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 mental retardation syndrome	PHF8	X-Linked Recessive	^[31]
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	^[32]	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