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
|
[1],
[2],
[3]
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
|
|
|