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 4/01/2019
6,446 Fully enrolled* participants
189 Eligible** Participants
6,635 Total
1000 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 idiopathic sideroblastic anemia 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 idiopathic neutropenia 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 Alagille syndrome due to a NOTCH2 point mutation
Alkaptonuria Allan-Herndon-Dudley syndrome Alpha-1-antitrypsin deficiency
Alopecia Alopecia universalis Alport syndrome
Amelogenesis imperfecta Amyloidosis Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis type 4 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 palmoplantar keratoderma and congenital alopecia
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Autosomal dominant spastic ataxia Autosomal dominant spastic paraplegia type 4
Autosomal dominant spastic paraplegia type 9 Autosomal dominant spastic paraplegia type 31 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, Beauce type Autosomal recessive ataxia due to ubiquinone deficiency Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
Autosomal recessive cerebellar ataxia 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 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 hypohidrotic ectodermal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive myogenic arthrogryposis multiplex congenita
Autosomal recessive spastic ataxia of Charlevoix-Saguenay 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 B-cell chronic lymphocytic leukemia Babesiosis
Bannayan-Riley-Ruvalcaba syndrome Baroreflex Failure Barrett esophagus
Bazex-Dupre-Christol syndrome 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 CADASIL
Camurati-Engelmann disease Capillary malformation Capillary malformation - arteriovenous malformation
Cardiofaciocutaneous syndrome Carotid-Cavernous Fistula Cat-scratch disease
Cataract-glaucoma 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
Chilblain lupus Choroidermia - hypopituitarism 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 Coenzyme Q10 deficiency
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 chloride diarrhea
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 glaucoma Congenital great vessels anomaly 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 Cutaneous mastocytoma Cutaneous mastocytosis
Cutaneous neuroendocrine carcinoma Cutis marmorata telangiectatica congenita Cyclic neutropenia
Cystic fibrosis Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 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
Ependymoma 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 clubfoot due 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 Free sialic acid storage disease
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
Glutaryl-CoA dehydrogenase deficiency Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to muscle phosphorylase kinase deficiency
Goldenhar syndrome Gorlin 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 proximal myopathy with early respiratory failure 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
Hypotonia-speech impairment-severe cognitive delay syndrome Iatrogenic botulism Iatrogenic or traumatic pituitary deficiency
Ichthyosis Ichthyosis - hepatosplenomegaly - cerebellar degeneration Idiopathic acute transverse myelitis
Idiopathic aplastic anemia Idiopathic avascular necrosis Idiopathic bilateral vestibulopathy
Idiopathic eosinophilic pneumonia 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
Intermediate severe Salla disease 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
Lambert-Eaton myasthenic 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 Lissencephaly with cerebellar hypoplasia
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 Paraplegia - intellectual disability - hyperkeratosis
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 Partial trisomy of the long arm of chromosome 18
Papillary or follicular thyroid carcinoma Pemphigus vulgaris Perinatal lethal hypophosphatasia
Perineural cyst Periodic fever syndrome Peripartum cardiomyopathy
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 POLG1
Polycythemia vera Polymyalgia rheumatica Polymyositis
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract Polyostotic fibrous dysplasia Pontine tegmental cap dysplasia
Popliteal pterygium syndrome 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 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 Pycnodysostosis
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 Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood 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
Trench fever Trigeminal autonomic cephalalgia Trigeminal neuralgia
TRIM63 Trisomy X TUBB2A mutation
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
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