CoRDS Metrics

The CoRDs program continues to grow and expand. Below are some updates on the progress of CoRDS over the past few years, including enrollment numbers, growth charts, represented diseases, and participation from around the world.

Enrollment Numbers

Metrics as of 1/01/2018
4,536  Fully enrolled* participants
137 Eligible** Participants
4,673 Total
750 Rare Diseases***
50 US States + DC
59 Countries***

*Informed Consent and Questionnaire Permission & Data-Sharing questions completed
**Informed Consent and Questionnaire pending completion
***From Enrolled participants

Represented Diseases

10q22.3q23.3 microduplication syndrome 12q24 duplication 15q13.3 microdeletion syndrome
16p11.2p12.2 microdeletion syndrome 16p13.11 microdeletion syndrome 17p11.2 microduplication syndrome
17q11.2 microduplication syndrome 19p13.12 microdeletion syndrome 19p13.13 microdeletion syndrome
1p36 deletion syndrome 1q21.1 microduplication syndrome 1q44 microdeletion syndrome
22q11.2 deletion syndrome 22q11.2 microduplication syndrome 2q23.1 microdeletion syndrome
2q33.1 microdeletion syndrome 2q37 microdeletion syndrome 3-methylglutaconic aciduria
3q26 microduplication syndrome 4-hydroxybutyric aciduria 4p Deletion Syndrome
4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome 5q14.3 microdeletion syndrome Non-Wolf-Hirschhorn Syndrome
8p23.1 microduplication syndrome Absent thumb - short stature - immunodeficiency Aceruloplasminemia
Acquired angioedema Acquired ataxia Acquired central diabetes insipidus
Acquired myasthenia gravis Acquired neutropenia Acquired peripheral neuropathy
Acquired von Willebrand syndrome Acromegaly Acromesomelic dysplasia
Acute adrenal insufficiency Acute biphenotypic leukemia Acute disseminated encephalomyelitis
Acute inflammatory demyelinating polyradiculoneuropathy Acute intermittent porphyria Acute motor-sensory axonal neuropathy
Acute multifocal placoid pigment epitheliopathy Addison disease Adie Syndrome
Adiposis dolorosa ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder Adult hepatocellular carcinoma
Adult polyglucosan body disease Adult hypophosphatasia Adult-onset autosomal recessive cerebellar ataxia
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome Aicardi syndrome Alcohol related ataxia
Alkaptonuria Allan-Herndon-Dudley syndrome Alpha-1-antitrypsin deficiency
Alopecia Alport syndrome Amelogenesis imperfecta
Amyloidosis Amyotrophic lateral sclerosis Aneurysm - osteoarthritis syndrome
Aniridia Aniridia - cerebellar ataxia - intellectual disability Ankylosing spondylitis
Anodontia Anomaly of chromosome 7 Anomaly of chromosome 16
Antiphospholipid syndrome Aorta coarctation Aplasia of lacrimal and salivary glands
Arachnoid cyst Arachnoiditis Arnold-Chiari malformation type I
Arterial duct anomaly Arterial thoracic outlet syndrome Arteriovenous malformation
Atrial septal defect, coronary sinus type Atrial septal defect, ostium secundum type Ataxia - Genetic diagnosis - Unknown
Ataxia - oculomotor apraxia type 1 Ataxia - Other Ataxia - pancytopenia
Ataxia with vitamin E deficiency Ataxia-telangiectasia Atrial tachyarrhythmia with short PR interval
Atypical autism Atypical hemolytic-uremic syndrome Atypical hemolytic-uremic syndrome with C3 anomaly
Autoimmune Inner Ear Disease Autoimmune polyendocrinopathy type 1 Autoimmune polyendocrinopathy type 2
Autoimmune thrombocytopenia Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia type 1 Autosomal dominant cerebellar ataxia type 2 Autosomal dominant cerebellar ataxia type 3
Autosomal dominant cerebellar ataxia, deafness and narcolepsy Autosomal dominant cervical dystonia Autosomal dominant complex spastic paraplegia
Autosomal dominant hyper-IgE syndrome Autosomal dominant non-syndromic sensorineural deafness type DFNA Autosomal dominant optic atrophy
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Autosomal recessive cerebellar ataxia due to STUB1 deficiency Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal dominant spastic ataxia Autosomal dominant spastic paraplegia type 31 Autosomal dominant spastic paraplegia type 4
Autosomal dominant spinocerebellar ataxia due to a channelopathy Autosomal dominant spinocerebellar ataxia due to a point mutation Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly
Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine Autosomal recessive ataxia due to ubiquinone deficiency Autosomal recessive ataxia, Beauce type
Autosomal recessive cerebellar ataxia Autosomal recessive cerebellar ataxia with late-onset spasticity Autosomal recessive cerebral atrophy
Autosomal recessive complex spastic paraplegia Autosomal recessive congenital ichthyosis Autosomal recessive degenerative and progressive cerebellar ataxia
Autosomal recessive spastic paraplegia type 7 Autosomal recessive spastic paraplegia type 11 Autosomal recessive systemic lupus erythematosus
Avascular necrosis Axenfeld-Rieger syndrome Babesiosis
Bannayan-Riley-Ruvalcaba syndrome Baroreflex Failure Barrett esophagus
Beckwith-Wiedemann syndrome Behcet disease Benign essential blepharospasm
Benign focal seizures of adolescence Benign paroxysmal tonic upgaze of childhood with ataxia Benign paroxysmal torticollis of infancy
Bernard-Soulier syndrome Bicornuate uterus Bilateral perisylvian polymicrogyria
Biliary atresia Bohring-Opitz syndrome Brachydactyly
Brain tumor ataxia Brooke-Spiegler syndrome Bruck syndrome
Brugada syndrome Bullous systemic lupus erythematosus Burning mouth syndrome
CACH syndrome Camurati-Engelmann disease Capillary malformation
Capillary malformation - arteriovenous malformation Cat-scratch disease Cardiofaciocutaneous syndrome
Celiac disease, epilepsy and cerebral calcification syndrome Central precocious puberty Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Cerebellar ataxia, Cayman type Cerebellar ataxia - hypogonadism Cerebellar ataxia with peripheral neuropathy
Cerebellar hypoplasia - tapetoretinal degeneration Cerebral malformation Cerebral cavernous malformations
Channelopathy due to a voltage-gated potassium channel defect Channelopathy due to a voltage-gated sodium channel defect Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease - deafness - intellectual disability Childhood apraxia of speech Childhood-onset hypophosphatasia
Chromosomal anomaly Chromosome 18q Deletion Syndrome Chronic autoimmune hepatitis
Chronic inflammatory demyelinating polyneuropathy Chronic muscular fatigue and/or chronic muscle pain Chronic primary adrenal insufficiency
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Classic medulloblastoma Classical homocystinuria
Classic stiff person syndrome Cleft lip/palate - intestinal malrotation - cardiopathy Cleft palate
CLIPPERS CLN1 disease CLN2 disease
CLN6 disease CLN7 disease Coats disease
Cockayne syndrome Cockayne syndrome type 1 Cockayne syndrome type 2
Cockayne syndrome type 3 Coffin-Lowry syndrome Coffin-Siris syndrome
Cogan syndrome Coloboma of iris Combined pituitary hormone deficiencies, genetic forms
Common variable immunodeficiency Complete atrioventricular canal - Fallot tetralogy Complex hereditary spastic paraplegia
Complex regional pain syndrome Complex regional pain syndrome type 1 Complex regional pain syndrome type 2
Congenital adrenal hyperplasia Congenital communicating hydrocephalus Congenital contractural arachnodactyly
Congenital diaphragmatic hernia Congenital disorder of glycosylation Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia type IV Congenital elbow dislocation Congenital Epstein-Barr virus infection
Congenital great vessels anomaly Congenital glaucoma Congenital heart malformation
Congenital hydrocephalus Congenital hypothyroidism Congenital laryngomalacia
Congenital liver hemangioma Congenital myasthenic syndrome Congenital primary lymphedema
Congenital pseudoarthrosis of the fibula Congenital pulmonary valve stenosis Congenital tracheomalacia
Congenital vitamin K-dependent coagulation factors deficiency Connective tissue disorder due to lysyl hydroxylase-3 deficiency Corneal-cerebellar syndrome
Cornelia de Lange syndrome Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis Cortical dysplasia - focal epilepsy syndrome
Corticobasal degeneration Cowden syndrome Craniosynostosis
Crohn disease Cryoglobulinemic vasculitis Cushing syndrome
Cutaneous leukocytoclastic angiitis Cutis marmorata telangiectatica congenita Cutaneous mastocytoma
Cutaneous mastocytosis Cyclic neutropenia Cystic fibrosis
Dementia pugilistica Dementia with Lewy body Dentinogenesis imperfecta
Denys-Drash syndrome Dermatomyositis Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Diffuse Idiopathic Skeletal Hyperostosis (DISH) Discrete fibromuscular subaortic stenosis Disease predisposing to age-related macular degeneration
Disorder of other vitamins and cofactors metabolism and transport Distal myopathy, Nonaka type Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Double outlet right ventricle Dravet syndrome Duane retraction syndrome
Duchenne muscular dystrophy Dural sinus malformation Dyskeratosis congenita
Dyspraxia Early infantile epileptic encephalopathy Early-onset cerebellar ataxia with retained tendon reflexes
EAST syndrome Ehlers-Danlos syndrome Ehlers-Danlos syndrome due to tenascin-X deficiency
Ehlers-Danlos syndrome type 1 Ehlers-Danlos syndrome, classic type Ehlers-Danlos syndrome, hypermobility type
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type Ehlers-Danlos syndrome, vascular-like type Ehrlichiosis
Emanuel syndrome Encephalopathy due to GLUT1 deficiency Eosinophilic esophagitis
Eosinophilic fasciitis Eosinophilic granulomatosis with polyangiitis Epidermal nevus syndrome
Epileptic encephalopathy with global cerebral demyelination Episodic ataxia type 1 Episodic ataxia type 3
Episodic ataxia type 4 Episodic ataxia type 5 Episodic ataxia type 6
Episodic Ataxia Unknown type Exposure to Medications Ataxia Erythromelalgia
Facioscapulohumeral dystrophy Familial adenomatous polyposis Familial amyloid polyneuropathy
Familial atypical multiple mole melanoma syndrome Familial bicuspid aortic valve Familial dysautonomia
Familial hypobetalipoproteinemia Familial hypocalciuric hypercalcemia Familial isolated congenital asplenia
Familial long QT syndrome Familial Mediterranean fever Familial medullary thyroid carcinoma
Familial or sporadic hemiplegic migraine Familial paroxysmal ataxia Familial restrictive cardiomyopathy
Familial Scheuermann disease Familial symmetric lipomatosis Familial syringomyelia
FBX011 alteration Feingold syndrome Fibromuscular dysplasia of arteries
Fibromyalgia Focal, segmental or multifocal dystonia Forestier's Diseases
Fragile X syndrome Friedreich ataxia Functional Neurological Disorder (FND)
GAD ataxia Ganglioneuroblastoma Gastrointestinal stromal tumor
Gaucher disease Generalized pustular psoriasis Genetic neuromuscular disease
Genetic peripheral neuropathy Genetic syndromic Pierre Robin syndrome Giant axonal neuropathy
Gliadin/Gluten ataxia Glucose transport disorder Glycogen storage disease due to acid maltase deficiency
Glycogen storage disease due to muscle phosphorylase kinase deficiency Goldenhar syndrome Granuloma Annulare
Granulomatosis with polyangiitis Growth Hormone Deficiency Harlequin syndrome
Hashimoto hypothyroidism Hashimoto thyroiditis Hemochromatosis type 1
Hemimegalencephaly Hemoglobin E - beta-thalassemia Hereditary cerebral cavernous malformation
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Hereditary episodic ataxia Hereditary essential tremor
Hereditary hemorrhagic telangiectasia Hereditary leiomyomatosis and renal cell cancer Hereditary motor and sensory neuropathy
Hereditary neuropathy with liability to pressure palsies Hereditary spastic paraplegia Hereditary spherocytosis
Hereditary vascular retinopathy Hirschsprung disease HIVEP2-related intellectual disability
Homocystinuria due to methylene tetrahydrofolate reductase deficiency Huntington disease Hyperacusis (Hyperacousis)
Hypernychthemeral syndrome Hypersomnolence Disorder Hypertrophic cardiomyopathy
Hypnic headache Hypobetalipoproteinemia Hypocomplementemic urticarial vasculitis
Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism Hypomyelination with atrophy of basal ganglia and cerebellum Hypophosphatasia
Hypoplasminogenemia Hypoplastic left heart syndrome Hypotonia - failure to thrive - microcephaly
Ichthyosis Ichthyosis - hepatosplenomegaly - cerebellar degeneration Idiopathic acute transverse myelitis
Idiopathic aplastic anemia Idiopathic avascular necrosis Idiopathic bilateral vestibulopathy
Idiopathic hypersomnia Idiopathic hypersomnia with long sleep time Idiopathic hypersomnia without long sleep time
Idiopathic infantile nystagmus Idiopathic intracranial hypertension Idiopathic pulmonary fibrosis
Idiopathic syringomyelia Immune thrombocytopenic purpura Immunoglobulin heavy chain deficiency
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Infantile cerebellar-retinal degeneration Infantile hypophosphatasia
Infection or post infection ataxia Inherited congenital spastic tetraplegia Inherited ichthyosis
Intellectual disability - alacrima - achalasia Intellectual disability - short stature - h Intellectual disability - hypotonia - spasticity - sleep disorder
Internal carotid agenesis Interstitial cystitis Inverse Klippel-Trenaunay syndrome
Isaac syndrome Isolated aniridia Isolated brachycephaly
Isolated Dandy-Walker malformation without hydrocephalus Isolated encephalocele Isolated Klippel-Feil syndrome
Isolated Pierre Robin syndrome Isolated plagiocephaly Isolated spina bifida
Jacobsen syndrome Joubert syndrome Juvenile Huntington disease
Juvenile idiopathic arthritis Juvenile myasthenia gravis Juvenile myoclonic epilepsy
Juvenile neuronal ceroid lipofuscinosis Juvenile polyposis syndrome Juvenile rheumatoid factor-positive polyarthritis
Kabuki syndrome Kallmann syndrome Kawasaki disease
KBG syndrome Keutel syndrome Kienbock disease
Kleefstra syndrome Kleine-Levin syndrome Langerhans cell histiocytosis
Late infantile neuronal ceroid lipofuscinosis Late-onset primary lymphedema Laing early-onset distal myopathy
Leber congenital amaurosis Leigh syndrome Leiomyosarcoma
Leiomyosarcoma of small intestine Leiomyosarcoma of the cervix uteri Leiomyosarcoma of the corpus uteri
Leukodystrophy Leukoencephalopathy with mild cerebellar ataxia and white matter edema Lhermitte-Duclos disease
Lichen Sclerosus Limb-girdle muscular dystrophy Linear IgA dermatosis
Lissencephaly Listeriosis Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
long qt type 6 Lyme disease Lymphomatoid papulosis
Machado-Joseph disease type 1 Machado-Joseph disease type 2 Machado-Joseph disease type 3
Madras motor neuron disease Manganese poisoning Marfan syndrome
Marinesco Sjogren Syndrome(Marinesco-Sjogren syndrome) Marshall syndrome Mayer-Rokitansky-Kuster-Hauser syndrome
McCune-Albright syndrome MED13L Syndrome Medium chain acyl-CoA dehydrogenase deficiency
Medullary sponge kidney Megalencephaly-capillary malformation-polymicrogyria syndrome Melorheostosis with osteopoikilosis
Meniere disease Meningocele Mesothelioma
Metachromatic leukodystrophy, adult form Microcystic lymphatic malformation Microscopic polyangiitis
Middle ear myoclonus Miller-Dieker syndrome Miscellaneous movement disorder due to genetic neurodegenerative disease
Misophonia Mitochondrial disease Mitochondrial disease with eye involvement
Mitochondrial disease with peripheral neuropathy Mixed connective tissue disease Moderate and severe traumatic brain injury
Moebius syndrome Monomelic amyotrophy Monosomy 18p
Monosomy 22q13 Mowat-Wilson syndrome Moyamoya disease
Mucinous adenocarcinoma of the appendix Muckle-Wells syndrome Mucolipidosis type 4
Mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 6
Mucopolysaccharidosis type 7 Multiple endocrine neoplasia Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple osteochondromas
Multiple system atrophy Multiple system atrophy, cerebellar type Multiple system atrophy, parkinsonian type
Muscle filaminopathy Myasthenia gravis Myelomeningocele
Myofibrillar myopathy Myotonic dystrophy Narcolepsy type 1
Narcolepsy type 2 Narcolepsy without cataplexy Narcolepsy-cataplexy
NARP syndrome Neonatal antiphospholipid syndrome Nephroblastoma
Nephropathy secondary to a storage or other metabolic disease Neurenteric cyst Neuroblastoma
Neurodegeneration with brain iron accumulation Neurodegenerative disease with chorea Neurofibromatosis type 1
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion Neurofibromatosis type 2 Neuronal ceroid lipofuscinosis
New daily-persistent headache Non-acquired combined pituitary hormone deficiency Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Non-hereditary degenerative ataxia Non-syndromic congenital cataract Non-syndromic pontocerebellar hypoplasia
Noonan syndrome Ocular motor apraxia, Cogan type Oculocerebrorenal syndrome
Odontohypophosphatasia Oligodontia Olivopontocerebellar atrophy - deafness
Ondine syndrome Opsoclonus-myoclonus syndrome Optic Nerve Atrophy
Optic neuropathy Optic pathway glioma Oral erosive lichen
Oroya fever Ornithine transcarbamylase deficiency Osteogenesis imperfecta
Osteogenesis imperfecta type 1 Osteonecrosis Osteopetrosis
Other Other acquired skin disease Other metabolic disease with epilepsy
Panhypopituitarism Pancreatic endocrine tumor Paris-Trousseau thrombocytopenia
Pars Planitis Uveitis Partial acquired lipodystrophy Partial androgen insensitivity syndrome
Partial deletion of the long arm of chromosome 1 Partial deletion of the long arm of chromosome 22 Partial deletion of the short arm of chromosome 4
Partial duplication of the short arm of chromosome 4 Patent foramen ovale Perinatal lethal hypophosphatasia
Perineural cyst Peroxisome biogenesis disorder-Zellweger syndrome spectrum Perrault syndrome
Peters anomaly Peters anomaly - cataract PHACE syndrome
Phenylketonuria Pierpont Syndrome Pierre Robin syndrome associated with collagen disease
Pitt-Hopkins syndrome Pituitary deficiency due to empty sella turcica syndrome PMM2-CDG
POEMS syndrome Poland syndrome Polymyalgia rheumatica
Polymyositis Polyostotic fibrous dysplasia Pontine tegmental cap dysplasia
Post-Head Injury Ataxia Posterior column ataxia - retinitis pigmentosa Postpoliomyelitic syndrome
Post-Stroke Ataxia Postural Orthostatic Tachycardia Syndrome Potocki-Shaffer syndrome
Prader-Willi syndrome Precocious puberty Preeclampsia
Prenatal benign hypophosphatasia Primary adrenal insufficiency Primary biliary cirrhosis
Primary hyperoxaluria Primary lateral sclerosis Primary myoclonus
Primary orthostatic hypotension Primary sclerosing cholangitis Primary tethered chord syndrome
Progressive multifocal leukoencephalopathy Prolactinoma Progressive supranuclear palsy
Proximal 16p11.2 microduplication syndrome Proximal spinal muscular atrophy type 3 PTEN hamartoma tumor syndrome
Pulmonary arterial hypertension Pulmonary interstitial glycogenosis Pure autonomic failure
Pyoderma gangrenosum - acne - suppurative hidradenitis Q fever Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
Qualitative or quantitative defects of filamin C Qualitative or quantitative defects of myofibrillar proteins Radius absent - anogenital anomalies
Rare acquired eye disease Rare diabetes mellitus type 1 Rare disease with autism
Rare disorder with dystonia and other neurologic or systemic manifestation Rare endometriosis Rare genetic hypothalamic or pituitary disease
Rare genetic intellectual disability with developmental anomaly Rare headache Rare hereditary hemochromatosis
Rare hereditary ataxia Rare hyperparathyroidism Rare pulmonary hypertension
Rare uterine cancer Reactive arthritis Recessive mitochondrial ataxia syndrome
Recurrent infections associated with rare immunoglobulin isotypes deficiency Refractory celiac disease Relapsing polychondritis
Renal or urinary tract malformation Retinitis pigmentosa Rett syndrome
Rhombencephalosynapsis Right inferior vena cava connecting to left-sided atrium Ring chromosome 14
Rocky Mountain spotted fever Romano-Ward syndrome RUVBL2 mutation
Sanfilippo syndrome type A Sanfilippo syndrome type B Sarcoidosis
Schinzel-Giedion syndrome Scleredema Secondary hemophagocytic lymphohistiocytosis
Secondary syringomyelia Selective IgM deficiency Semicircular canal dehiscence syndrome
Sensorineural hearing loss - early graying - essential tremor Sensory ataxic neuropathy - dysarthria - ophthalmoparesis Sickle cell - beta-thalassemia disease
Silver-Russell syndrome Simple cryoglobulinemia Sjögren syndrome
Sleep disorder Smith-Lemli-Opitz syndrome Solar urticaria
Solitary median maxillary central incisor syndrome Spastic ataxia Spasticity-ataxia-gait anomalies syndrome
Spinal cord injury Spinocerebellar ataxia - Unknown Spinocerebellar ataxia type 1
Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 12
Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 14 Spinocerebellar ataxia type 15/16
Spinocerebellar ataxia type 17 Spinocerebellar ataxia type 18 Spinocerebellar ataxia type 19/22
Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 22 Spinocerebellar ataxia type 28
Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 3 Spinocerebellar ataxia type 31
Spinocerebellar ataxia type 38 Spinocerebellar ataxia type 4 Spinocerebellar ataxia type 42
Spinocerebellar ataxia type 5 Spinocerebellar ataxia type 6 Spinocerebellar ataxia type 7
Spinocerebellar ataxia type 8 Spinocerebellar ataxia type 20 Spinocerebellar ataxia with axonal neuropathy type 2
Spinocerebellar ataxia with oculomotor anomaly Sporadic adult-onset ataxia of unknown etiology Sprengel deformity
Steinert myotonic dystrophy Sternal cleft Steroid-responsive encephalopathy associated with autoimmune thyroiditis
Stevens-Johnson syndrome Stickler syndrome Stickler syndrome type 1
Stickler syndrome type 2 Stickler syndrome type 3 Stiff person syndrome and related disorders
Supravalvular aortic stenosis Syndrome with hypoparathyroidism Syndromic aniridia
Syringomyelia Systemic-onset juvenile idiopathic arthritis Systemic Lupus Erythematosus
Systemic mastocytosis Systemic sclerosis Tay-Sachs disease
Temporomandibular joint anomaly Thomsen and Becker disease Thoracic outlet syndrome
Thrombotic thrombocytopenic purpura Tolosa-Hunt syndrome Tornwaldt Cyst
Toxic Exposure ataxia Transposition of the great arteries Treacher-Collins syndrome
Trigeminal autonomic cephalalgia Trigeminal neuralgia TRIM63
Trisomy X Tuberous sclerosis Tumor of cranial and spinal nerves
Tumor necrosis factor receptor 1 associated periodic syndrome Turner syndrome Type II mixed cryoglobulinemia
Typical urticaria pigmentosa Ulcerative colitis Unclassified autosomal dominant spinocerebellar ataxia
Unclassified juvenile idiopathic arthritis Unclassified overlapping connective tissue disease Undiagnosed
Undifferentiated connective tissue syndrome Unknown leukodystrophy Uveitis
Vascular malformation Ventricular septal defect Very long chain acyl-CoA dehydrogenase deficiency
Vestibular schwannoma Vitiligo-associated autoimmune disease WAGR syndrome
Waldenstrom macroglobulinemia West syndrome Wiedemann-Steiner syndrome
Williams syndrome Wildervanck syndrome Wolf-Hirschhorn syndrome
Wolfram syndrome X-linked hypophosphatemia X-linked progressive cerebellar ataxia
X-linked hypophosphatemia X-linked lymphoproliferative disease Xeroderma pigmentosum-Cockayne syndrome complex
Zellweger syndrome ZYMND11

Enrolled Participant Countries

Albania Argentina Australia
Austria Belgium Brazil
Bulgaria Canada Chile
China Croatia Colombia
Cyprus Denmark Egypt
Ethiopia Finland France
Georgia Germany Greece
Honduras Hong Kong Iceland
India Iran Ireland
Israel Italy Japan
Jordan Lebanon Malaysia
Mexico Morocco Nepal
Netherlands New Zealand Norway
Pakistan Philippines Poland
Portugal Russia Saudi Arabia
Serbia Seychelles Singapore
Slovenia South Africa Spain
Sri Lanka Sweden Switzerland
Thailand Uganda United Arab Emirates
United Kingdom United States of America (USA)