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 2/01/2019
6,092 Fully enrolled* participants
182 Eligible** Participants
6,274 Total
961 Rare Diseases***
50 US States + DC
64 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 45,X/46,XY mixed gonadal dysgenesis
4p Deletion Syndrome 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome 5q13.3q22.1 duplication
5q14.3 microdeletion syndrome Non-Wolf-Hirschhorn Syndrome 8p23.1 microduplication syndrome
ABCD 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 Acral peeling skin syndrome Acromegaly
Acromesomelic dysplasia Actinic prurigo Activated PIK3-delta syndromea
Acute adrenal insufficiency Acute biphenotypic leukemia Acute disseminated encephalomyelitis
Acute inflammatory demyelinating polyradiculoneuropathy Acute intermittent porphyria Acute motor-sensory axonal neuropathy
Acute motor axonal neuropathy Acute multifocal placoid pigment epitheliopathy Acquired pituitary hormone deficiency
Addison disease Adie Syndrome Adiposis dolorosa
ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder Adrenal incidentaloma Adult hepatocellular carcinoma
Adult-onset distal myopathy due to VCP mutation 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 Albright hereditary osteodystrophy Alagille syndrome
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
Anophthalmia - microphthalmia Antiphospholipid syndrome Aorta coarctation
Aplasia of lacrimal and salivary glands Arachnoid cyst Arachnoiditis
Arnold-Chiari malformation type I Arterial duct anomaly Arnold-Chiari malformation type II
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 Atrial septal aneurysm
Atrioventricular canal defect (AVSD) Atypical autism Atypical hemolytic-uremic syndrome
Atypical hemolytic-uremic syndrome with C3 anomaly Autoimmune Inner Ear Disease Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Autoimmune necrotizing myopathy 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 childhood-onset proximal spinal muscular atrophy
Autosomal dominant complex spastic paraplegia Autosomal dominant Emery-Dreifuss muscular dystrophy Autosomal dominant hereditary sensory and autonomic neuropathy
Autosomal dominant hypophosphatemic rickets Autosomal dominant hyper-IgE syndrome Autosomal dominant Kenny-Caffey syndrome
Autosomal dominant limb-girdle muscular dystrophy Autosomal dominant non-syndromic sensorineural deafness type DFNA Autosomal dominant optic atrophy
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Autosomal dominant spastic paraplegia type 9 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Autosomal recessive cerebellar ataxia due to STUB1 deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
Autosomal recessive hypohidrotic ectodermal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2A 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 spastic paraplegia type 39
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 Best vitelliform macular dystrophy
Bicornuate uterus Bilateral renal agenesis Bilateral perisylvian polymicrogyria
Biliary atresia Bohring-Opitz syndrome Brachydactyly
Brachydactyly - nystagmus - cerebellar ataxia Brain tumor ataxia Bronchial endocrine tumor
Brooke-Spiegler syndrome Bruck syndrome Brugada syndrome
Bullous systemic lupus erythematosus Burning mouth syndrome C3 glomerulonephritis
CACH syndrome CACNA1A gene mutation Camurati-Engelmann disease
Capillary malformation Capillary malformation - arteriovenous malformation Cat-scratch disease
Cardiofaciocutaneous syndrome Celiac disease, epilepsy and cerebral calcification syndrome Central areolar choroidal dystrophy
Central precocious puberty Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss Cerebellar ataxia, Cayman type
Cerebellar ataxia - hypogonadism Cerebellar ataxia - ectodermal dysplasia 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
Choroidermia - hypopituitarism Congenital rubella syndrome Congenital chloride diarrhea
Chromosomal anomaly Chromosome 18q Deletion Syndrome Chronic autoimmune hepatitis
Chronic inflammatory demyelinating polyneuropathy Chronic muscular fatigue and/or chronic muscle pain Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
Chronic primary adrenal insufficiency Chronic recurrent multifocal osteomyelitis 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 CLN3 disease
CLN6 disease CLN7 disease CLTC-Related Disorder
Coats disease Cockayne syndrome Cockayne syndrome type 1
Cockayne syndrome type 2 Cockayne syndrome type 3 CODAS syndrome
Coffin-Lowry syndrome Coffin-Siris syndrome Cogan syndrome
Collagenous colitis Coloboma of iris Combined cervical dystonia
Combined pituitary hormone deficiencies, genetic forms Common variable immunodeficiency Complete androgen insensitivity syndrome
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 Cone rod dystrophy
Congenital absence/hypoplasia of thumb 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 factor II deficiency Congenital great vessels anomaly
Congenital glaucoma Congenital heart malformation Congenital hydrocephalus
Congenital hypothyroidism Congenital isolated hyperinsulinism Congenital laryngomalacia
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Congenital liver hemangioma Congenital mitral valve insufficiency and/or stenosis
Congenital myasthenic syndrome Congenital narrowing of cervical spinal canal Congenital primary lymphedema
Congenital pseudoarthrosis of the fibula Congenital pulmonary valve stenosis Congenital pulmonary veins atresia or stenosis
Congenital tracheomalacia Congenital vitamin K-dependent coagulation factors deficiency Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Continuous spikes and waves during sleep Corneal-cerebellar syndrome Cornelia de Lange syndrome
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis Cortical dysplasia - focal epilepsy syndrome Corticobasal degeneration
Cowden syndrome Cramp Fasciculation syndrome Craniopharyngioman
Craniosynostosis Craniosynostosis - Dandy-Walker malformation - hydrocephalus CREST syndrome
Crohn disease Cryoglobulinemic vasculitis CTNNB1 Syndrome
Cushing syndrome Cushing syndrome due to ectopic ACTH secretion Cutaneous leukocytoclastic angiitis
Cutis marmorata telangiectatica congenita Cutaneous mastocytoma Cutaneous mastocytosis
Cyclic neutropenia Cystic fibrosis DEAF1 - Deformed epidermal autoregulatory factor – 1
Dementia pugilistica Dementia with Lewy body Dentatorubral pallidoluysian atrophy
Dentinogenesis imperfecta Denys-Drash syndrome Dermatomyositis
Desminopathy Developmental anomaly of metabolic origin Developmental delay with autism spectrum disorder and gait instability
Diastematormyelia Diazoxide-sensitive diffuse hyperinsulinism 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 amino acid and other organic acid metabolism 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 Duodenal atresia
Dural sinus malformation Dysequilibrium syndrome Dyskeratosis congenita
Dyspraxia Early-onset autosomal dominant Alzheimer disease Early infantile epileptic encephalopathy
Early-onset cerebellar ataxia with retained tendon reflexes Early-onset spastic ataxia-neuropathy syndrome EAST syndrome
Ehlers-Danlos syndrome Ehlers-Danlos syndrome due to tenascin-X deficiency Ehlers-Danlos syndrome, kyphoscoliotic type
Ehlers-Danlos syndrome with periventricular heterotopia 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 Electromagnetic Frequency Sensitivity Emanuel syndrome
Encephalopathy due to GLUT1 deficiency Enchondromatosis Eosinophilic esophagitis
Eosinophilic fasciitis Eosinophilic granulomatosis with polyangiitis Eosinophilic gastroenteritis
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 Epstein syndrome
Exposure to Medications Ataxia Excessive fragmentary hypnic myoclonus Erythromelalgia
Fabry disease Facioscapulohumeral dystrophy Familial adenomatous polyposis
Familial amyloid polyneuropathy Familial atypical multiple mole melanoma syndrome Familial bicuspid aortic valve
Familial dysautonomia Familial hemophagocytic lymphohistiocytosis Familial hypobetalipoproteinemia
Familial hypocalciuric hypercalcemia Familial isolated congenital asplenia Familial long QT syndrome
Familial Mediterranean fever Familial medullary thyroid carcinoma Familial mitral valve prolapse
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
FOXP1 Syndrome Fragile X-associated tremor/ataxia syndrome Fragile X syndrome
Friedreich ataxia Frontotemporal dementia with motor neuron disease Functional Neurological Disorder (FND)
GAD ataxia Ganglioneuroblastoma Gastrointestinal stromal tumor
Gaucher disease Gaucher disease type 2 Generalized pustular psoriasis
Genetic hyperparathyroidism Genetic neuromuscular disease Genetic peripheral neuropathy
Genetic syndromic Pierre Robin syndrome Giant axonal neuropathy Glaucoma - sleep apnea
Gliadin/Gluten ataxia Glossopharyngeal neuralgia 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 Griscelli disease type 2
Growth Hormone Deficiency Harlequin syndrome Hashimoto
Hashimoto hypothyroidism Hashimoto thyroiditis Hemochromatosis type 1
Hemimegalencephaly Hemoglobin E - beta-thalassemia Hereditary cerebral cavernous malformation
Hereditary chronic pancreatitis Hereditary coproporphyria 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 nonpolyposis colon cancer Hereditary sensory neuropathy deafness dementia syndrome Hereditary spastic paraplegia
Hereditary spherocytosis Hereditary vascular retinopathy Herpes simplex virus keratitis
HIVEP2-related intellectual disability Homocystinuria due to methylene tetrahydrofolate reductase deficiency Huntington disease
Huntington disease-like 1 Hyperacusis (Hyperacousis) Hypernychthemeral syndrome
Hypersomnia Associated with a Psychiatric Condition Hypersomnia Due to a Medical Condition Hypersomnolence Disorder
Hypertrophic cardiomyopathy Hypnic headache Hypnic jerking
Hypobetalipoproteinemia Hypocomplementemic urticarial vasculitis Hypokalemic periodic paralysis
Hypomyelination - congenital cataract Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism Hypomyelination neuropathy - arthrogryposis
Hypomyelination with atrophy of basal ganglia and cerebellum Hypophosphatasia Hypophosphatemic rickets
Hypoplasminogenemia Hypoplastic left heart syndrome Hypotonia - failure to thrive - microcephaly
Iatrogenic or traumatic pituitary deficiency Ichthyosis Ichthyosis - hepatosplenomegaly - cerebellar degeneration
Idiopathic acute transverse myelitis Idiopathic aplastic anemia Idiopathic avascular necrosis
Idiopathic bilateral vestibulopathy Idiopathic facial palsy Idiopathic hypersomnia
Idiopathic hypersomnia with long sleep time Idiopathic hypersomnia without long sleep time Idiopathic infantile nystagmus
Idiopathic inflammatory myopathy Idiopathic intracranial hypertension Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary fibrosis Idiopathic syringomyelia Immune thrombocytopenic purpura
  Immunoglobulin heavy chain deficiency Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Inclusion body myopathy with Paget disease of boneand frontotemporal dementia Inclusion body myositis Infantile cerebellar-retinal degeneration
Infantile hypophosphatasia Infantile neuronal ceroid lipofuscinosis Infection or post infection ataxia
Infectious, fungal or parasitic myopathy 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
IRIDA syndrome Isaac syndrome Isolated aniridia
Isolated brachycephaly 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 psoriatic arthritis
Juvenile rheumatoid factor-positive polyarthritis Kabuki syndrome Kallmann syndrome
Kawasaki disease KAT6A Syndrome KBG syndrome
Keutel syndrome Kennedy disease Kienbock disease
Kleefstra syndrome Kleine-Levin syndrome Langerhans cell histiocytosis
Landau-Kleffner syndrome Late infantile neuronal ceroid lipofuscinosis Late-onset isolated ACTH deficiency
Late-onset primary lymphedema Laing early-onset distal myopathy Leber congenital amaurosis
Ledderhose disease Legionellosis Leigh syndrome
Leiomyosarcoma of small intestine Leiomyosarcoma of the cervix uteri Leiomyosarcoma of the corpus uteri
Leukodystrophy Leukoencephalopathy - ataxia - hypodontia - hypomyelination Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Lhermitte-Duclos disease Lichen Sclerosus Limb-girdle muscular dystrophy
Linear IgA dermatosis Linear nevus sebaceus syndrome Lissencephaly
Listeriosis Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency long qt type 6
Lumbosacral spina bifida cystica Lyme disease Lymphomatoid papulosis
Machado-Joseph disease type 1 Machado-Joseph disease type 2 Machado-Joseph disease type 3
Madras motor neuron disease Maffucci syndrome Malan overgrowth syndrome
Manganese poisoning Marfan syndrome Marfan and Marfan-related disorder
Marinesco Sjogren Syndrome(Marinesco-Sjogren syndrome) Marshall Syndrome Metabolic disease with intestinal involvement
Maternally-inherited Leigh 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
Meningioma Meningocele MEPEN Syndrome
Mesothelioma Metachromatic leukodystrophy, adult form Metaphyseal chondrodysplasia, Jansen type
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 MODY
Moebius syndrome Mollaret's Meningitis Monomelic amyotrophy
Monosomy 18p Monosomy 22q13 Morgellons
Motor neuron disease 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 sclerosis variant Multiple system atrophy Multiple system atrophy, cerebellar type
Multiple system atrophy, parkinsonian type MURCS association Muscle filaminopathy
Myalgic Encephalomyelitis Myasthenia gravis Mycoplasma encephalitis
Myelomeningocele Myofibrillar myopathy Myotonic dystrophy
MYT1L Syndrome Narcolepsy type 1 Narcolepsy type 2
Narcolepsy without cataplexy Narcolepsy-cataplexy NARP syndrome
Neonatal antiphospholipid syndrome Neurogenic thoracic outlet 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 Neurofibromatosis type 3
Neuronal ceroid lipofuscinosis New daily-persistent headache NLRP12-associated hereditary periodic fever syndrome
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
Not NOTCH3-related small vessel disease of the brain 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 metabolic disease Other acquired skin disease
Other metabolic disease with epilepsy Other syndrome with a central nervous system malformation as major feature Panhypopituitarism
Pancreatic endocrine tumor Paraneoplastic neurologic syndrome 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 18 Partial deletion of the long arm of chromosome 22
Partial deletion of the short arm of chromosome 3 Partial deletion of the short arm of chromosome 4 Patent foramen ovale
Partial duplication of the short arm of chromosome 4 Papillary or follicular thyroid carcinoma Pemphigus vulgaris
Perinatal lethal hypophosphatasia Perineural cyst Periodic fever syndrome
Peroxisome biogenesis disorder-Zellweger syndrome spectrum Perrault syndrome Peters anomaly
Peters anomaly - cataract PHACE syndrome Phenylketonuria
Phyllode tumor 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 Polycythemia vera
Polymyalgia rheumatica Polymyositis Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
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 basilar impression Primary ciliary dyskinesia
Primary biliary cirrhosis Primary dystonia, DYT21 type Primary dystonia, DYT6 type
Primary hyperoxaluria Primary immunodeficiency Primary lateral sclerosis
Primary lymphedema Primary myoclonus Primary orthostatic hypotension
Primary Progressive Multiple Scleoresis Primary sclerosing cholangitis Primary tethered chord syndrome
Progressive hemifacial atrophy Progressive multifocal leukoencephalopathy Prolactinoma
Progressive supranuclear palsy Propriospinal Myoclonus Proximal 16p11.2 microduplication syndrome
Proximal spinal muscular atrophy type 1 Proximal spinal muscular atrophy type 3 Pseudohypoaldosteronism type 2
PTEN hamartoma tumor syndrome Ptosis Pulmonary arterial hypertension
Pulmonary interstitial glycogenosis Pulmonary branch stenosis Pulmonary valve agenesis - Fallot`s tetralogy - absence of ductus arteriosus
Pure autonomic failure Pyoderma gangrenosum 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 adult hypothyroidism Rare diabetes mellitus type 1 Rare disease with autism
Rare disease in surgical orthopedic Rare disorder with dystonia and other neurologic or systemic manifestation Rare genetic hypothalamic or pituitary disease
Rare genetic intellectual disability with developmental anomaly Rare genetic neurological disorder Rare headache
Rare hereditary hemochromatosis Rare hereditary ataxia Rare hyperparathyroidism
Rare inflammatory bowel disease Rare movement disorder Rare pervasive developmental disorder
Rare pulmonary hypertension Rare rheumatologic disease Rare surgical neurologic disease
Rare uterine cancer Reactive arthritis Recessive mitochondrial ataxia syndrome
Recurrent infections associated with rare immunoglobulin isotypes deficiency Refractory celiac disease Relapsing fever
Relapsing polychondritis Renal nutcracker syndrome Renal or urinary tract malformation
Retinitis pigmentosa Retinoblastoma Rett syndrome
Rhombencephalosynapsis Rickettsial disease Right inferior vena cava connecting to left-sided atrium
Ring chromosome 14 Rocky Mountain spotted fever Romano-Ward syndrome
Ross Syndrome RUVBL2 mutation Sanfilippo syndrome type A
Sanfilippo syndrome type B SAPHO syndrome Sarcoidosis
Schinzel-Giedion syndrome Scleredema Scleroderma
Secondary hemophagocytic lymphohistiocytosis Secondary syringomyelia Selective IgM deficiency
Semicircular canal dehiscence syndrome Sensorineural hearing loss - early graying - essential tremor Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Shone complex Sickle cell - beta-thalassemia disease Silver-Russell syndrome
Simple cryoglobulinemia Sjoumlgren syndrome Sleep disorder
Sleep myoclonus Smith-Lemli-Opitz syndrome Solar urticaria
Solitary median maxillary central incisor syndrome Spastic ataxia Spinal cord injury
Spinal muscular atrophy associated with central nervous system anomaly Spinal muscular atrophy with respiratory distress type 1 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 34 Spinocerebellar ataxia type 35
Spinocerebellar ataxia type 36 Spinocerebellar ataxia type 38 Spinocerebellar ataxia type 4
Spinocerebellar ataxia type 40 Spinocerebellar ataxia type 42 Spinocerebellar Ataxia Type 44
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 Susceptibility to chronic infection by Epstein-Barr virus Syndrome associated with Pierre Robin syndrome
Syndrome with hypoparathyroidism Syndromic aniridia Syringomyeli
Systemic capillary leak syndrome Systemic disease with cataract Systemic mastocytosis
Systemic sclerosis Tay-Sachs disease Temporomandibular joint anomaly
Tetanus 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 Undetermined colitis Unclassified autosomal dominant spinocerebellar ataxia
Unclassified juvenile idiopathic arthritis Unclassified overlapping connective tissue disease Undiagnosed
Undifferentiated connective tissue syndrome Unknown leukodystrophy Uveal melanoma
Uveitis Unexplained periodic fever syndrome Vascular malformation
Van der Woude syndrome VCP Disease Ventricular septal defect
Very long chain acyl-CoA dehydrogenase deficiency Vestibular schwannoma Vitamin B12 Deficiency Ataxia
Vitiligo-associated autoimmune disease Von Willebrand disease type 2B WAGR syndrome
Waldenstrom macroglobulinemia West-Nile encephalitis West syndrome
Wiedemann-Steiner syndrome Wildervanck syndrome Williams syndrome
White matter hypoplasia - corpus callosum agenesis - intellectual disability Wolf-Hirschhorn syndrome Wolfram syndrome
Xeroderma pigmentosum-Cockayne syndrome complex X-linked adrenoleukodystrophy X-linked hypophosphatemia
X-linked lymphoproliferative disease X-linked progressive cerebellar ataxia Zellweger syndrome
Zollinger-Ellison syndrome ZYMND11 alteration

Enrolled Participant Countries

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