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 5/31/2018
5,195 Fully enrolled* participants
118 Eligible** Participants
5,313 Total
848 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 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 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 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 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 Atrioventricular canal defect (AVSD) Atypical autism
Atypical hemolytic-uremic syndrome Atypical hemolytic-uremic syndrome with C3 anomaly Autoimmune Inner Ear Disease
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 complex spastic paraplegia
Autosomal dominant Emery-Dreifuss muscular dystrophy Autosomal dominant hyper-IgE syndrome Autosomal dominant Kenny-Caffey 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 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 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 Bronchial endocrine tumor
Brooke-Spiegler syndrome Bruck syndrome Brugada syndrome
Bullous systemic lupus erythematosus Burning mouth syndrome 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 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 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 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
CLN6 disease CLN7 disease 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 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
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 Dentinogenesis imperfecta
Denys-Drash syndrome Dermatomyositis Desminopathy
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 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 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 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
Emanuel syndrome Encephalopathy due to GLUT1 deficiency Eosinophilic colitis
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
Exposure to Medications Ataxia Erythromelalgia Fabry disease
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 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 syndrome
Friedreich ataxia Functional Neurological Disorder (FND) GAD ataxia
Ganglioneuroblastoma Gastrointestinal stromal tumor Gaucher disease
Generalized pustular psoriasis Genetic hyperparathyroidism 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 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
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 Hypobetalipoproteinemia
Hypocomplementemic urticarial vasculitis Hypokalemic periodic paralysis 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 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 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 Infantile cerebellar-retinal degeneration Infantile hypophosphatasia
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 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 KAT6A Syndrome
KBG syndrome Keutel syndrome Kienbock disease
Kleefstra syndrome Kleine-Levin syndrome Langerhans cell histiocytosis
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
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
Linear nevus sebaceus syndrome 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
MEPEN Syndrome 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 MODY
Moebius syndrome Mollaret's Meningitis Monomelic amyotrophy
Monosomy 18p Monosomy 22q13 Morgellons
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 Myasthenia gravis
Mycoplasma encephalitis 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 Neurofibromatosis type 3 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
Other syndrome with a central nervous system malformation as major feature 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 Periodic fever syndrome
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 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 hyperoxaluria Primary immunodeficiency
Primary lateral sclerosis Primary myoclonus Primary orthostatic hypotension
Primary sclerosing cholangitis Primary tethered chord syndrome Progressive hemifacial atrophy
Progressive multifocal leukoencephalopathy Prolactinoma Progressive supranuclear palsy
Proximal 16p11.2 microduplication syndrome Proximal spinal muscular atrophy type 1 Proximal spinal muscular atrophy type 3
PTEN hamartoma tumor syndrome Pulmonary arterial hypertension Pulmonary interstitial glycogenosis
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
/tr> /tr> /tr> /tr>
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 movement disorder Rare pervasive developmental disorder
Rare pulmonary hypertension 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 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 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
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 36 Spinocerebellar ataxia type 38 Spinocerebellar ataxia type 4
Spinocerebellar ataxia type 40 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 associated with Pierre Robin syndrome Syndrome with hypoparathyroidism Syndromic aniridia
Syringomyeli 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 Ulcerative 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
Ventricular septal defect Very long chain acyl-CoA dehydrogenase deficiency Vestibular schwannoma
Vitiligo-associated autoimmune disease WAGR syndrome Waldenstrom macroglobulinemia
West-Nile encephalitis West syndrome Wiedemann-Steiner syndrome
Wildervanck syndrome Williams syndrome 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 ZYMND11 alteration

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 Turkey Uganda
United Arab Emirates United Kingdom United States of America (USA)