|
Pycnodysostosis |
1-9 in 1,000,000 |
10,000 |
|
|
Primrose syndrome |
<1 in 1,000,000 |
15,000 |
|
|
Potocki-Shaffer syndrome |
<1 in 1,000,000 |
10,000 |
|
|
Postaxial Acrofacial Dysostosis |
<1 in 1,000,000 |
10,000 |
|
|
Pierre Robin Sequence with Cleft Mandible and Limb Anomalies |
Unknown |
10,000 |
|
|
Pierpont syndrome |
<1 in 1,000,000 |
2,340 |
|
|
Pfeiffer syndrome |
Unknown |
20,700 |
|
|
Peters plus syndrome |
<1 in 1,000,000 |
15,000 |
|
|
Peroxisome Biogenesis Disorder |
Unknown |
10,000 |
|
|
Peho syndrome |
Unknown |
10,000 |
|
|
Partington X-Linked Mental Retardation syndrome |
Unknown |
15,000 |
|
|
Pallister-Hall syndrome |
<1 in 1,000,000 |
15,000 |
|
|
Otospondylomegaepiphyseal Dysplasia |
<1 in 1,000,000 |
20,700 |
|
|
Otopalatodigital syndrome |
Unknown |
20,000 |
|
|
Osteopathia Striata with Cranial Sclerosis |
Unknown |
15,000 |
|
|
Opsismodysplasia |
Unknown |
10,000 |
|
|
Opitz-Kaveggia syndrome |
Unknown |
10,000 |
|
|
Opitz GBBB Syndrome, Type II |
Unknown |
30,000 |
|
|
Omodysplasia |
<1 in 1,000,000 |
20,000 |
|
|
Odontoonychodermal Dysplasia |
Unknown |
16,000 |
|
|
Oculodentodigital Dysplasia |
Unknown |
15,000 |
|
|
Non-Centromeric 18p Deletion |
Unknown |
10,000 |
|
|
Nijmegen Breakage syndrome |
Unknown |
15,000 |
|
|
Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset |
<1 in 1,000,000 |
10,000 |
|
|
Nasopalpebral lipoma-coloboma syndrome |
<1 in 1,000,000 |
30,000 |
|
|
Nablus Mask-Like Facial syndrome |
<1 in 1,000,000 |
12,000 |
|
|
Myotonic Dystrophy |
1-9 in 100,000 |
15,000 |
|
|
Multiple Synostoses syndrome |
<1 in 1,000,000 |
14,000 |
|
|
Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects |
Unknown |
10,000 |
|
|
Mulibrey Nanism |
Unknown |
35,000 |
|
|
Muenke syndrome |
Unknown |
2,880 |
|
|
Mucopolysaccharidosis, Type IIIC |
1-9 in 100,000 |
35,000 |
|
|
Mucopolysaccharidosis, Type IIIB |
1-9 / 1 000 000 |
20,700 |
|
|
Mucolipidosis |
Unknown |
25,000 |
|
|
Mitochondrial complex I deficiency |
Unknown |
20,700 |
|
|
Miller-Dieker Lissencephaly syndrome |
Unknown |
25,000 |
|
|
Microphthalmia, Syndromic 2 |
Unknown |
30,000 |
|
|
Microphthalmia with Limb Anomalies |
<1 in 1,000,000 |
45,000 |
|
|
Microcephaly 5, primary autosomal recessive |
Unknown |
25,000 |
|
|
Microcephaly – autosomal recessive – hypomyelination – PYCR2 mutations |
Unknown |
20,000 |
|
|
Microcephalic Osteodysplastic Primordial Dwarfism 2 |
Unknown |
16,000 |
|
|
Microcephalic Osteodysplastic Primordial Dwarfism 1 |
Unknown |
50,000 |
|
|
Metaphyseal Chondrodysplasia, Jansen Type |
|
15,000 |
|
|
Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type |
Unknown |
1,400 |
|
|
Mental Retardation, X-Linked, Syndromic, Nascimento Type |
<1 in 1,000,000 |
1,500 |
|
|
Mental Retardation, X-Linked, Syndromic, Cabezas Type |
Unknown |
10,000 |
|
|
Mental Retardation, X-Linked, Syndromic, Bain Type |
Unknown |
1,500 |
|
|
Mental Retardation, X-Linked, Syndromic 33 |
Unknown |
15,000 |
|
|
Mental Retardation, X-Linked 99, Syndromic, Female-Restricted |
Unknown |
10,000 |
|
|
Mental Retardation, Autosomal Recessive 36 |
Unknown |
|
|
|
Mental Retardation, Autosomal Dominant 6, with or without seizures |
Unknown |
2,880 |
|
|
Mental Retardation, Autosomal Dominant 5 |
Unknown |
2,340 |
|
|
Mental Retardation, Autosomal Dominant 32 |
Unknown |
20,700 |
|
|
Mental Retardation, Autosomal Dominant 31 |
<1 in 1,000,000 |
7,200 |
|
|
Mental Retardation, Autosomal Dominant 19 (MRD19) |
<1 in 1,000,000 |
|
|
|
Mental Retardation X-Linked 102 (MRX102) |
<1 in 1,000,000 |
14,040 |
|
|
Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) |
<1 in 1,000,000 |
14,760 |
|
|
Melnick-Needles syndrome (MNS) |
<1 in 1,000,000 |
4,860 |
|
|
Meier-Gorlin syndrome |
<1 in 1,000,000 |
3,780 |
|
|
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome |
<1 in 1,000,000 |
19,620 |
|
|
Marshall-Smith syndrome (MRSHSS) |
<1 in 1,000,000 |
7,560 |
|
|
Marshall syndrome (MRSHS) |
<1 in 1,000,000 |
2,880 |
|
|
Marden-Walker syndrome (MWKS) |
<1 in 1,000,000 |
2,520 |
|
|
Mannosidosis, Alpha B, Lysosomal (MANSA) |
<1 in 1,000,000 |
3,420 |
|
|
Manitoba Oculotrichoanal syndrome (MOTA) |
<1 in 1,000,000 |
|
|
|
Mandibulofacial Dysostosis, Guion-Almeida Type (MFDGA) |
<1 in 1,000,000 |
12,600 |
|
|
Mandibuloacral Dysplasia with Lipodystrophy |
<1 in 1,000,000 |
900 |
|
|
Macs syndrome |
<1 in 1,000,000 |
2,340 |
|
|
Lujan-Fryns syndrome |
<1 in 1,000,000 |
5,040 |
|
|
Lubs X-Linked Mental Retardation syndrome (MRXSL) |
1-9 in 1,000,000 |
10,440 |
|
|
Lissencephaly 1 (LIS1) |
1-9 in 1,000,000 |
42,840 |
|
|
Lipodystrophy, Congenital Generalized |
1-9 in 1,000,000 |
1,800 |
|
|
Lig4 syndrome |
<1 in 1,000,000 |
1,620 |
|
|
Lenz-Majewski Hyperostotic Dwarfism (LMHD) |
<1 in 1,000,000 |
5,040 |
|
|
Lateral Meningocele syndrome (LMNS) |
<1 in 1,000,000 |
3,240 |
|
|
Larsen syndrome (LRS) |
1-9 in 1,000,000 |
10,620 |
|
|
Laron syndrome |
1-9 in 1,000,000 |
1,620 |
|
|
Klinefelter syndrome |
<1 in 1,000,000 |
69,660 |
|
|
Keutel Syndrome |
<1 in 1,000,000 |
180 |
|
|
Kaufman Oculocerebrofacial syndrome (KOS) |
<1 in 1,000,000 |
3,780 |
|
|
Joubert syndrome |
1-9 in 100,000 |
55,620 |
|
|
Johnson Neuroectodermal syndrome |
<1 in 1,000,000 |
360 |
|
|
Johanson-Blizzard syndrome (JBS) |
<1 in 1,000,000 |
1,800 |
|
|
Ichthyosis, Congenital, Autosomal Recessive |
1-9 in 1,000,000 |
180 |
|
|
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 (IHPRF3) |
<1 in 1,000,000 |
1,980 |
|
|
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 (IHPRF2) |
<1 in 1,000,000 |
|
|
|
Hypothyroidism, Congenital, Nongoitrous |
<1 in 1,000,000 |
900 |
|
|
Hypoparathyroidism-Retardation-Dysmorphism syndrome (HRDS) |
<1 in 1,000,000 |
900 |
|
|
Hyper-IgE Recurrent Infection syndrome |
<1 in 1,000,000 |
3,780 |
|
|
Hurler syndrome |
1-9 in 1,000,000 |
9,180 |
|
|
Holt-Oram syndrome (HOS) |
<1 in 1,000,000 |
8,640 |
|
|
Holoprosencephaly |
<1 in 1,000,000 |
180 |
|
|
Hennekam Lymphangiectasia-Lymphedema syndrome 1 (HKLLS1) |
<1 in 1,000,000 |
2,700 |
|
|
Hemifacial Microsomia |
<1 in 1,000,000 |
360 |
|
|
Hemifacial Atrophy, Progressive (HFA) |
<1 in 1,000,000 |
18,720 |
|
|
Greig Cephalopolysyndactyly syndrome (GCPS) |
<1 in 1,000,000 |
12,600 |
|
|
Gomez-Lopez-Hernandez syndrome (GLHS) |
<1 in 1,000,000 |
10,440 |
|
|
Frontonasal Dysplasia |
<1 in 1,000,000 |
4,860 |
|
|
Frontofacionasal Dysplasia |
<1 in 1,000,000 |
1,260 |
|
|
Frank-Ter Haar syndrome (FTHS) |
<1 in 1,000,000 |
1,440 |
|
|
Fontaine Progeroid syndrome |
<1 in 1,000,000 |
540 |
|
|
Focal Facial Dermal Dysplasia |
<1 in 1,000,000 |
1,260 |
|
|
Focal Dermal Hypoplasia (FDH) |
<1 in 1,000,000 |
16,020 |
|
|
Filippi syndrome (FLPIS) |
<1 in 1,000,000 |
3,780 |
|
|
Feingold syndrome |
<1 in 1,000,000 |
14,220 |
|
|
Emanuel syndrome |
<1 in 1,000,000 |
12,600 |
|
|
Ehlers-Danlos syndrome, vascular type (EDSVASC) |
<1 in 1,000,000 |
9,000 |
|
|
Ehlers-Danlos syndrome, Musculocontractural Type 1 (EDSMC1) |
<1 in 1,000,000 |
9,180 |
|
|
Donnai-Barrow syndrome |
<1 in 1,000,000 |
4,320 |
|
|
Diastrophic Dysplasia (DTD) |
1-9 in 100,000 |
1,800 |
|
|
Distal 18q Deletion |
<1 in 1,000,000 |
|
|
|
Cutis Laxa, Autosomal Recessive |
<1 in 1,000,000 |
16,020 |
|
|
Crigler-Najjar syndrome (Type I) |
<1 in 1,000,000 |
1,080 |
|
|
Craniosynostosis, Adelaide Type (CRSA) |
<1 in 1,000,000 |
720 |
|
|
Craniometaphyseal Dysplasia |
<1 in 1,000,000 |
1,080 |
|
|
Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation syndrome (CFSMR) |
<1 in 1,000,000 |
9,000 |
|
|
Craniodiaphyseal Dysplasia (CDD Autosomal Recessive) |
<1 in 1,000,000 |
360 |
|
|
Congenital disorder of glycosylation (CDDG) |
<1 in 1,000,000 |
|
|
|
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) |
<1 in 1,000,000 |
1,440 |
|
|
Coffin-Lowry syndrome (CLS) |
1-9 in 100,000 |
16,740 |
|
|
Cleidocranial Dysplasia (CCD) |
1-9 in 1,000,000 |
10,620 |
|
|
Cleft Lip/palate-Ectodermal Dysplasia syndrome (CLPED1) |
<1 in 1,000,000 |
360 |
|
|
Chromosome 8q21.11 Deletion syndrome |
<1 in 1,000,000 |
5,220 |
|
|
Chromosome 3pter-p25 Deletion syndrome |
<1 in 1,000,000 |
5,940 |
|
|
Chromosome 2q37 Deletion syndrome |
<1 in 1,000,000 |
12,600 |
|
|
SHORT syndrome |
<1 in 1,000,000 |
3,960 |
|
|
Opitz GBBB syndrome |
1-9 in 100,000 |
15,120 |
|
|
Neurofibromatosis, Type I (NF1) |
1-5 in 10,000 |
|
|
|
LEOPARD syndrome |
<1 in 1,000,000 |
22,320 |
|
|
Hutchinson-Gilford Progeria syndrome (HGPS) |
<1 in 1,000,000 |
4,500 |
|
|
Hajdu-Cheney syndrome (HJCYS) |
<1 in 1,000,000 |
4,860 |
|
|
Greig Cephalopolysyndactyly syndrome (GCPS) |
<1 in 1,000,000 |
12,600 |
|
|
Craniofrontonasal syndrome (CFNS) |
<1 in 1,000,000 |
4,860 |
|
|
Cold-Induced Sweating syndrome |
<1 in 1,000,000 |
5,220 |
|
|
Chromosome 1q21.1 – Microdeletion |
<1 in 1,000,000 |
360 |
|
|
Chromosome 16p13.3 Duplication syndrome |
<1 in 1,000,000 |
|
|
|
Char syndrome (CHAR) |
<1 in 1,000,000 |
1,080 |
|
|
Cerebrooculofacioskeletal syndrome |
<1 in 1,000,000 |
4,500 |
|
|
Cerebellar Ataxia, Non Progressive, with Mental Retardation (CANPMR) |
<1 in 1,000,000 |
180 |
|
|
Catel-Manzke syndrome (CATMANS) |
<1 in 1,000,000 |
540 |
|
|
Campomelic Dysplasia |
<1 in 1,000,000 |
4,320 |
|
|
Borjeson-Forssman-Lehmann syndrome (BFLS) |
<1 in 1,000,000 |
4,680 |
|
|
Blepharonasofacial Malformation syndrome |
<1 in 1,000,000 |
|
|
|
Blepharocheilodontic syndrome (BCDS) |
<1 in 1,000,000 |
4,680 |
|
|
Birk-Barel Mental Retardation Dysmorphism syndrome |
<1 in 1,000,000 |
5,400 |
|
|
Biotinidase Deficiency |
1-9 in 100,000 |
5,040 |
|
|
Basel Vanagaite Smirin Yosef syndrome (BVSYS) |
<1 in 1,000,000 |
1,080 |
|
|
Barth syndrome (BTHS) |
1-9 in 1,000,000 |
1,440 |
|
|
Barber-Say syndrome |
<1 in 1,000,000 |
540 |
|
|
Bainbridge-Ropers syndrome (BRPS) |
<1 in 1,000,000 |
3,780 |
|
|
Arthrogryposis, Distal, Type 8 (DA8) |
<1 in 1,000,000 |
360 |
|
|
Arthrogryposis, Distal, Type 2A (DA2A) |
<1 in 1,000,000 |
1,800 |
|
|
Amyotrophy, Hereditary Neuralgic (HNA) |
1-5 in 10,000 |
|
|
|
Ablepharon-Macrostomia syndrome |
<1 in 1,000,000 |
1,800 |
|
|
Andersen Cardiodysrhythmic Periodic Paralysis |
|
1,800 |
|
|
Alternating Hemiplegia of Childhood |
|
450 |
|
|
Allan-Herndon-Dudley syndrome (AHDS) |
<1 in 1,000,000 |
900 |
|
|
Aarskog-Scott syndrome |
1 in 25,000 |
15,300 |
|
|
Acromelic Frontonasal Dysostosis (AFND) |
<1 in 1,000,000 |
900 |
|
|
Acrofacial Dysostosis, Catania Type |
<1 in 1,000,000 |
|
|
|
Burn-Mckeown syndrome (BMKS) |
<1 in 1,000,000 |
900 |
|
|
Bosma Arhinia Microphthalmia syndrome |
<1 in 1,000,000 |
540 |
|
|
Hartsfield syndrome (HRTFDS) |
<1 in 1,000,000 |
1,980 |
|
|
Cherubism |
<1 in 1,000,000 |
1,980 |
|
|
Gapo syndrome |
<1 in 1,000,000 |
2,340 |
|
|
Frontometaphyseal Dysplasia (FMD) |
<1 in 1,000,000 |
2,340 |
|
|
3-Methylglutaconic Aciduria |
<1 in 1,000,000 |
2,340 |
|
|
Auriculocondylar syndrome |
<1 in 1,000,000 |
2,700 |
|
|
Hallermann-Streiff syndrome (HSS) |
Unknown |
2,880 |
|
|
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation and seizures syndrome (DOORS) |
<1 in 1,000,000 |
2,880 |
|
|
Cerebrocostomandibular syndrome (CCMS) |
<1 in 1,000,000 |
2,880 |
|
|
Bosch-Boonstra-Schaaf Optic Atrophy syndrome (BBSOAS) |
<1 in 1,000,000 |
2,880 |
|
|
Ayme-Gripp syndrome (AYGRP) |
<1 in 1,000,000 |
2,880 |
|
|
Acrofacial Dysostosis 1, Nager Type (AFD1) |
Unknown |
2,880 |
|
|
Desanto-Shinawi syndrome |
Unknown |
3,240 |
|
|
Aspartylglucosaminuria (AGU) |
Unknown |
3,240 |
|
|
Cantu syndrome |
<1 in 1,000,000 |
3,420 |
|
|
Mucopolysaccharidosis, Type IX (MPS9) |
|
|
|
|
Blepharophimosis, Ptosis, and Epicanthus Inversus (BPES) |
Unknown |
5,760 |
|
|
Schinzel-Giedion Midface Retraction syndrome |
<1 in 1,000,000 |
5,940 |
|
|
Mucolipidosis II Alpha/beta |
<1 in 1,000,000 |
6,120 |
|
|
Ohdo syndrome, SBBYS Variant (SBBYSS) |
<1 in 1,000,000 |
6,300 |
|
|
Shprintzen-Goldberg Craniosynostosis syndrome (SGS) |
<1 in 1,000,000 |
6,840 |
|
|
DYRK1A Mutation (Mental Retardation, Autosomal Dominant 7; MRD7) |
Unknown |
6,840 |
|
|
Branchiooculofacial syndrome (BOFS) |
Unknown |
7,020 |
|
|
Apert syndrome |
60 in 80,000 |
7,020 |
|
|
Nicolaides-Baraitser syndrome (NCBRS) |
<1 in 1,000,000 |
7,200 |
|
|
Acrocallosal syndrome (ACLS) |
<1 in 1,000,000 |
7,200 |
|
|
3MC syndrome |
<1 in 1,000,000 |
7,200 |
|
|
Treacher Collins syndrome |
1-9 in 100,000 |
7,740 |
|
|
Seckel syndrome |
<1 in 1,000,000 |
7,740 |
|
|
Chromosome 9p Deletion syndrome |
Unknown |
8,280 |
|
|
Myhre syndrome (MYHRS) |
<1 in 1,000,000 |
8,820 |
|
|
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked (XHED) |
6-9 in 10,000 |
10,080 |
|
|
Weaver syndrome (WVS) |
1 in 15,000 |
10,440 |
|
|
Cleidocranial Dysplasia (CCD) |
1-9 in 1,000,000 |
10,620 |
|
|
Trichorhinophalangeal syndrome |
Unknown |
11,160 |
|
|
Crouzon syndrome |
1 in 2,000-2,5000 |
11,520 |
|
|
Dubowitz syndrome |
Unknown |
12,780 |
|
|
Alpha-Thalassemia/mental Retardation syndrome, X-Linked (ATRX) |
<1 in 1,000,000 |
13,860 |
|
|
Floating-Harbor syndrome (FLHS) |
Unknown |
14,040 |
|
|
Cohen syndrome (COH1) |
Unknown |
14,040 |
|
|
49,XXxxy syndrome |
Unknown |
14,040 |
|
|
Fabry Disease |
1-5 in 10,000 |
14,760 |
|
|
Bloom syndrome (BLM) |
Unknown |
15,480 |
|
|
Cockayne syndrome |
Unknown |
15,840 |
|
|
Pallister-Killian syndrome (PKS) |
Unknown |
16,920 |
|
|
Bohring-Opitz syndrome (BOPS) |
<1 in 1,000,000 |
17,280 |
|
|
Achondroplasia (ACH) |
1 in 25,000 |
17,280 |
|
|
Adams-Oliver syndrome |
Unknown |
17,460 |
|
|
Moebius syndrome (MBS) |
1 in 500,000 |
17,820 |
|
|
Robinow syndrome |
1 in 500,000 |
18,000 |
|
|
Noonan syndrome-Like Disorder with Loose Anagen Hair (NSLH) |
<1 in 1,000,000 |
18,000 |
|
|
Stickler syndrome |
1-9 in 100,000 |
20,700 |
|
|
Mowat-Wilson syndrome (MOWS) |
|
20,700 |
|
|
Basal Cell Nevus syndrome (BCNS) |
1 in 60,000 |
21,420 |
|
|
Witteveen-Kolk syndrome (WITKOS) |
<1 in 1,000,000 |
21,600 |
|
|
Schuurs-Hoeijmakers syndrome (SHMS) |
|
21,780 |
|
|
Baraitser-Winter syndrome |
<1 in 1,000,000 |
21,960 |
|
|
Costello syndrome (CSTLO) |
|
22,140 |
|
|
Saethre-Chotzen syndrome (SCS) |
1 in 50,000 |
23,760 |
|
|
Kleefstra syndrome |
<1 in 1,000,000 |
26,280 |
|
|
Wiedemann-Steiner syndrome (WDSTS) |
1 in 40,000 |
26,640 |
|
|
Chromosome 1p36 Deletion syndrome |
1 in 10,000 |
26,820 |
|
|
Alagille syndrome |
1 in 30,000 |
26,820 |
|
|
Waardenburg syndrome |
1 in 40,000 |
28,620 |
|
|
Mucolipidosis Type IV |
1 in 40,000 |
33,480 |
|
|
Koolen-de Vries syndrome (KDVS) |
|
33,660 |
|
|
Potocki-Lupski syndrome (PTLS) |
1 in 25,000 |
33,840 |
|
|
Wolf-Hirschhorn syndrome (WHS) |
1 in 50,000 |
35,640 |
|
|
Smith-Magenis syndrome (SMS) |
1-9 in 100,000 |
36,360 |
|
|
Bardet-Biedl syndrome |
1-9 in 1,000,000 |
37,800 |
|
|
PMM2-Related Disorder |
1 in 20,000 |
39,060 |
|
|
Cri-Du-Chat syndrome |
|
39,420 |
|
|
Loeys-Dietz syndrome |
|
39,600 |
|
|
Pitt-Hopkins syndrome (PTHS) |
1-9 in 1,000,000 |
40,860 |
|
|
Beckwith-Wiedemann syndrome (BWS) |
1 in 10,500 |
41,580 |
|
|
Fetal Valproate syndrome |
|
45,000 |
|
|
Hyperphosphatasia with Mental Retardation syndrome |
<1 in 1,000,000 |
46,440 |
|
|
CHARGE syndrome |
1 in 10,000 |
48,060 |
|
|
Cardiofaciocutaneous syndrome |
1 in 810,000 |
49,500 |
|
|
Glass syndrome |
1 in 20,000 |
56,520 |
|
|
Marfan syndrome (MFS) |
1 in 5-10,000 |
59,040 |
|
|
Fetal Alcohol syndrome (FAS) |
10 in 1,000 |
59,580 |
|
|
Phelan-Mcdermid syndrome (PHMDS) |
|
65,160 |
|
|
Silver-Russell syndrome (SRS) |
1 in 100,000 |
70,920 |
|
|
Megalencephaly-Capillary Malformation-Polymicrogyria syndrome (MCAP) |
<1 in 1,000,000 |
71,100 |
|
|
Rett syndrome (RTT) |
1 in 10,000 |
73,440 |
|
|
Turner syndrome |
1 in 2,000 |
78,300 |
|
|
Menkes Disease |
1 in 100,000 |
5,040 |
|
|
Mucopolysaccharidosis Type IIID (MPS3D) |
1-9 in 1,000,000 |
900 |
|
|
Mucopolysaccharidosis Type IVA (MPS4A) |
1-5 in 10,000 |
15,480 |
|
|
Mucopolysaccharidosis Type IIIA (MPS3A) |
1-9 in 1,000,000 |
6,300 |
|
|
Mucopolysaccharidosis Type VI (MPS6) |
1 in 43,261-1,505,160 |
11,340 |
|
|
Mucopolysaccharidosis Type 2 (MPS2) |
1 in 166,000 |
104,760 |
|
|
Smith-Lemli-Opitz syndrome (SLOS) |
1 in 20,000-40,000 |
39,780 |
|
|
Prader-Willi syndrome (PWS) |
1-9 in 100,000 |
71,280 |
|
|
Sotos syndrome |
1-9 in 100,000 |
42,480 |
|
|
KBG syndrome (KBGS) |
<1 in 1,000,000 |
34,380 |
|
|
Cornelia De Lange syndrome |
1 in 45,000-62,500 |
50,400 |
|
|
Townes-Brocks syndrome (TBS) |
- |
|
|
|
Anosmia, Isolated Congenital (ANIC) |
- |
|
|
|
Mucopolysaccharidoses |
1 in 25,000 |
75,960 |
|
|
Fragile X syndrome |
1 in 2,400-6,000 |
77,400 |
|
|
Rubinstein-Taybi syndrome |
1 in 100,000-125,000 |
73,440 |
|
|
Coffin-Siris syndrome |
<1 in 1,000,000 |
92,700 |
|
|
Angelman syndrome |
1 in 12,000-20,000 |
99,720 |
|
|
Kabuki syndrome |
1 in 32,000-86,000 |
86,400 |
|
|
Down syndrome |
1 in 700 |
44,280 |
|
|
Noonan syndrome |
1 in 1,000-2,500 |
110,520 |
|
|
Williams-Beuren syndrome (WBS) |
1 in 7,500-10,000 |
49,320 |
|
|
22q11.2 Deletion syndrome |
1 in 4,000-7,000 |
79,380 |
|