RECRUITING

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

Conditions

Rare DisordersUndiagnosed DisordersDisorders of Unknown PrevalenceCornelia De Lange SyndromePrenatal Benign HypophosphatasiaPerinatal Lethal HypophosphatasiaOdontohypophosphatasiaAdult HypophosphatasiaChildhood-onset HypophosphatasiaInfantile HypophosphatasiaHypophosphatasiaKabuki SyndromeBohring-Opitz SyndromeNarcolepsy Without CataplexyNarcolepsy-cataplexyHypersomnolence DisorderIdiopathic Hypersomnia Without Long Sleep TimeIdiopathic Hypersomnia With Long Sleep TimeIdiopathic HypersomniaKleine-Levin SyndromeKawasaki DiseaseLeiomyosarcomaLeiomyosarcoma of the Corpus UteriLeiomyosarcoma of the Cervix UteriLeiomyosarcoma of Small IntestineAcquired Myasthenia GravisAddison DiseaseHyperacusis (Hyperacousis)Juvenile Myasthenia GravisTransient Neonatal Myasthenia GravisWilliams SyndromeLyme DiseaseMyasthenia GravisMarinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)Isolated Klippel-Feil SyndromeFrasier SyndromeDenys-Drash SyndromeBeckwith-Wiedemann SyndromeEmanuel SyndromeIsolated AniridiaAxenfeld-Rieger SyndromeAniridia-intellectual Disability SyndromeAniridia - Renal Agenesis - Psychomotor RetardationAniridia - Ptosis - Intellectual Disability - Familial ObesityAniridia - Cerebellar Ataxia - Intellectual DisabilityAniridia - Absent PatellaAniridiaPeters Anomaly - CataractPeters AnomalyPotocki-Shaffer SyndromeSilver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11Silver-Russell Syndrome Due to Imprinting Defect of 11p15Silver-Russell Syndrome Due to 11p15 MicroduplicationSyndromic AniridiaWAGR SyndromeWolf-Hirschhorn Syndrome4p16.3 Microduplication Syndrome4p Deletion Syndrome, Non-Wolf-Hirschhorn SyndromeAutosomal Recessive Stickler SyndromeStickler Syndrome Type 2Stickler Syndrome Type 1Stickler SyndromeMucolipidosis Type 4X-linked Spinocerebellar Ataxia Type 4X-linked Spinocerebellar Ataxia Type 3X-linked Intellectual Disability - Ataxia - ApraxiaX-linked Progressive Cerebellar AtaxiaX-linked Non Progressive Cerebellar AtaxiaX-linked Cerebellar AtaxiaVitamin B12 Deficiency AtaxiaToxic Exposure AtaxiaUnclassified Autosomal Dominant Spinocerebellar AtaxiaThyroid Antibody AtaxiaSporadic Adult-onset Ataxia of Unknown EtiologySpinocerebellar Ataxia With Oculomotor AnomalySpinocerebellar Ataxia With EpilepsySpinocerebellar Ataxia With Axonal Neuropathy Type 2Spinocerebellar Ataxia Type 8Spinocerebellar Ataxia Type 7Spinocerebellar Ataxia Type 6Spinocerebellar Ataxia Type 5Spinocerebellar Ataxia Type 4Spinocerebellar Ataxia Type 37Spinocerebellar Ataxia Type 36Spinocerebellar Ataxia Type 35Spinocerebellar Ataxia Type 34Spinocerebellar Ataxia Type 32Spinocerebellar Ataxia Type 31Spinocerebellar Ataxia Type 30Spinocerebellar Ataxia Type 3Spinocerebellar Ataxia Type 29Spinocerebellar Ataxia Type 28Spinocerebellar Ataxia Type 27Spinocerebellar Ataxia Type 26Spinocerebellar Ataxia Type 25Spinocerebellar Ataxia Type 23Spinocerebellar Ataxia Type 22Spinocerebellar Ataxia Type 21Spinocerebellar Ataxia Type 20Spinocerebellar Ataxia Type 2Spinocerebellar Ataxia Type 19/22Spinocerebellar Ataxia Type 18Spinocerebellar Ataxia Type 17Spinocerebellar Ataxia Type 16Spinocerebellar Ataxia Type 15/16Spinocerebellar Ataxia Type 14Spinocerebellar Ataxia Type 13Spinocerebellar Ataxia Type 12Spinocerebellar Ataxia Type 11Spinocerebellar Ataxia Type 10Spinocerebellar Ataxia Type 1 With Axonal NeuropathySpinocerebellar Ataxia Type 1Spinocerebellar Ataxia - UnknownSpinocerebellar Ataxia - DysmorphismNon Progressive Epilepsy and/or Ataxia With Myoclonus as a Major FeatureSpasticity-ataxia-gait Anomalies SyndromeSpastic Ataxia With Congenital MiosisSpastic Ataxia - Corneal DystrophySpastic AtaxiaRare Hereditary AtaxiaRare AtaxiaRecessive Mitochondrial Ataxia SyndromeProgressive Epilepsy and/or Ataxia With Myoclonus as a Major FeaturePosterior Column Ataxia - Retinitis PigmentosaPost-Stroke AtaxiaPost-Head Injury AtaxiaPost Vaccination AtaxiaPolyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - CataractMuscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes MellitusNon-hereditary Degenerative AtaxiaParoxysmal Dystonic Choreathetosis With Episodic Ataxia and SpasticityOlivopontocerebellar Atrophy - DeafnessNARP SyndromeMyoclonus - Cerebellar Ataxia - DeafnessMultiple System Atrophy, Parkinsonian TypeMultiple System Atrophy, Cerebellar TypeMultiple System AtrophyMaternally-inherited Leigh SyndromeMachado-Joseph Disease Type 3Machado-Joseph Disease Type 2Machado-Joseph Disease Type 1Leigh SyndromeLate-onset Ataxia With DementiaInfection or Post Infection AtaxiaGAD AtaxiaHereditary Episodic AtaxiaGliadin/Gluten AtaxiaFriedreich AtaxiaFragile X-associated Tremor/Ataxia SyndromeFamilial Paroxysmal AtaxiaExposure to Medications AtaxiaEpisodic Ataxia With Slurred SpeechEpisodic Ataxia Unknown TypeEpisodic Ataxia Type 7Episodic Ataxia Type 6Episodic Ataxia Type 5Episodic Ataxia Type 4Episodic Ataxia Type 3Episodic Ataxia Type 1Epilepsy and/or Ataxia With Myoclonus as Major FeatureEarly-onset Spastic Ataxia-neuropathy SyndromeEarly-onset Progressive Neurodegeneration - Blindness - Ataxia - SpasticityEarly-onset Cerebellar Ataxia With Retained Tendon ReflexesEarly-onset Ataxia With DementiaChildhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar AtaxiaDilated Cardiomyopathy With AtaxiaCataract - Ataxia - DeafnessCerebellar Ataxia, Cayman TypeCerebellar Ataxia With Peripheral NeuropathyCerebellar Ataxia - HypogonadismCerebellar Ataxia - Ectodermal DysplasiaCerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing LossBrain Tumor AtaxiaBrachydactyly - Nystagmus - Cerebellar AtaxiaBenign Paroxysmal Tonic Upgaze of Childhood With AtaxiaAutosomal Recessive Syndromic Cerebellar AtaxiaAutosomal Recessive Spastic Ataxia With LeukoencephalopathyAutosomal Recessive Spastic Ataxia of Charlevoix-SaguenayAutosomal Recessive Spastic Ataxia - Optic Atrophy - DysarthriaAutosomal Recessive Spastic AtaxiaAutosomal Recessive Metabolic Cerebellar AtaxiaAutosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode PolyglutamineAutosomal Recessive Ataxia, Beauce TypeAutosomal Recessive Ataxia Due to Ubiquinone DeficiencyAutosomal Recessive Ataxia Due to PEX10 DeficiencyAutosomal Recessive Degenerative and Progressive Cerebellar AtaxiaAutosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 DeficiencyAutosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 DeficiencyAutosomal Recessive Congenital Cerebellar AtaxiaAutosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia SyndromeAutosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX DeficiencyAutosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD DeficiencyAutosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 DeficiencyAutosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability SyndromeAutosomal Recessive Cerebellar Ataxia With Late-onset SpasticityAutosomal Recessive Cerebellar Ataxia Due to STUB1 DeficiencyAutosomal Recessive Cerebellar Ataxia Due to a DNA Repair DefectAutosomal Recessive Cerebellar Ataxia - Saccadic IntrusionAutosomal Recessive Cerebellar Ataxia - Psychomotor RetardationAutosomal Recessive Cerebellar Ataxia - Blindness - DeafnessAutosomal Recessive Cerebellar AtaxiaAutosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine AnomalyAutosomal Dominant Spinocerebellar Ataxia Due to a Point MutationAutosomal Dominant Spinocerebellar Ataxia Due to a ChannelopathyAutosomal Dominant Spastic Ataxia Type 1Autosomal Dominant Spastic AtaxiaAutosomal Dominant Optic AtrophyAtaxia-telangiectasia VariantAtaxia-telangiectasiaAutosomal Dominant Cerebellar Ataxia, Deafness and NarcolepsyAutosomal Dominant Cerebellar Ataxia Type 4Autosomal Dominant Cerebellar Ataxia Type 3Autosomal Dominant Cerebellar Ataxia Type 2Autosomal Dominant Cerebellar Ataxia Type 1Autosomal Dominant Cerebellar AtaxiaAtaxia-telangiectasia-like DisorderAtaxia With Vitamin E DeficiencyAtaxia With DementiaAtaxia - Oculomotor Apraxia Type 1Ataxia - OtherAtaxia - Genetic Diagnosis - UnknownAcquired AtaxiaAdult-onset Autosomal Recessive Cerebellar AtaxiaAlcohol Related AtaxiaMultiple Endocrine NeoplasiaMultiple Endocrine Neoplasia Type IIMultiple Endocrine Neoplasia Type 1Multiple Endocrine Neoplasia Type 2Multiple Endocrine Neoplasia, Type IVMultiple Endocrine Neoplasia, Type 3Multiple Endocrine Neoplasia (MEN) SyndromeMultiple Endocrine Neoplasia Type 2BMultiple Endocrine Neoplasia Type 2AAtypical Hemolytic Uremic SyndromeAtypical HUSWiedemann-Steiner SyndromeBreast Implant-Associated Anaplastic Large Cell LymphomaAutoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA)Hemophagocytic LymphohistiocytosisBehcet's DiseaseAlagille SyndromeInclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD)Lowe SyndromePitt Hopkins Syndrome1p36 Deletion SyndromeJansen Type Metaphyseal ChondrodysplasiaCockayne SyndromeChronic Recurrent Multifocal OsteomyelitisCRMOMalan SyndromeHereditary Sensory and Autonomic Neuropathy Type IeVCP DiseaseHypnic JerkingSleep MyoclonusMollaret MeningitisRecurrent Viral MeningitisCRB1Leber Congenital AmaurosisRetinitis PigmentosaRare Retinal DisorderKCNMA1-ChannelopathyPrimary Biliary CirrhosisZMYND11Transient Global AmnesiaGlycogen Storage DiseaseAlstrom SyndromeWhite Sutton SyndromeDNM1EIEE31Myhre SyndromeRecurrent Respiratory PapillomatosisLaryngeal PapillomatosisTracheal PapillomatosisRefsum DiseaseNicolaides Baraitser SyndromeLeukodystrophyTango2Cauda Equina SyndromeRare Gastrointestinal DisordersAchalasia-Addisonian SyndromeAchalasia CardiaAchalasia Icrocephaly SyndromeAnal FistulaCongenital Sucrase-Isomaltase DeficiencyEosinophilic GastroenteritisIdiopathic GastroparesisHirschsprung DiseaseRare Inflammatory Bowel DiseaseIntestinal Pseudo-ObstructionSclerodermaShort Bowel SyndromeSacral AgenesisSacral Agenesis SyndromeCaudal RegressionScheuermann DiseaseSMC1A Truncated Mutations (Causing Loss of Gene Function)CystinosisJuvenile Nephropathic CystinosisNephropathic CystinosisKennedy DiseaseSpinal Bulbar Muscular AtrophyWarburg Micro SyndromeMucolipidosesMitochondrial DiseasesMitochondrial Aminoacyl-tRNA SynthetasesMt-aaRS DisordersHypertrophic Olivary DegenerationNon-Ketotic HyperglycinemiaFish Odor SyndromeHalitosisIsolated Congenital AspleniaLambert Eaton (LEMS)Biliary AtresiaSTAG1 Gene MutationCoffin Lowry SyndromeBorjeson-Forssman-Lehman SyndromeBlau SyndromeArginase 1 DeficiencyHSPB8 MyopathyBeta-MannosidosisTBX4 SyndromeDHDDS Gene MutationsMAND-MBD5-Associated Neurodevelopmental DisorderConstitutional Mismatch Repair Deficiency (CMMRD)SPATA5 DisorderSPATA5L1 Related DisorderRare DiseasesNeglected DiseasesOrphan DiseasesRare Disease ResearchRegistriesAtaxiaAtaxia TelangiectasiaBatten DiseaseMucolipidosis IVKlippel-Feil SyndromeUndiagnosedUncommon DiseaseHypersomniaHyperacusisMarinesco-Sjogren Syndrome4p-/Wolf-Hirschhorn SyndromeNarcolepsyWiedermann-Steiner SyndromeHemophagocytic Lymphohistiocytosis (HLH)Jansen metaphyseal chondrodysplasiaChronic recurrent multifocal osteomyelitis (CRMO)Hereditary Sensory and Autonomic NeuropathyNephropathic infantile cystinosisOcular cystinosisSpinal Bulbar Muscular Atrophy (SBMA)MucolipidosisMitochondrial aminoacyl-tRNA synthetases (Mt-aaRS Disorders)Shine SyndromeIntestinal Bromhidrosis SyndromeAutosomal recessive extra oral halitosisCACNA1H mutationDimethylglycine dehydrogenase deficiency

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

Official Title

Coordination of Rare Diseases at Sanford

Quick Facts

Study Start:2010-07
Study Completion:2100-12
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT01793168

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an unaffected carrier of a rare/uncommon disease
  1. * Diagnosis of a disease which is not rare

Contacts and Locations

Study Contact

CoRDS Team
CONTACT
1-877-658-9192
cords@sanfordhealth.org

Study Locations (Sites)

Sanford Health
Sioux Falls, South Dakota, 57104
United States

Collaborators and Investigators

Sponsor: Sanford Health

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2010-07
Study Completion Date2100-12

Study Record Updates

Study Start Date2010-07
Study Completion Date2100-12

Terms related to this study

Keywords Provided by Researchers

  • Rare Diseases
  • Neglected Diseases
  • Orphan Diseases
  • Rare Disease Research
  • Registries
  • WAGR Syndrome
  • Ataxia
  • Cornelia de Lange Syndrome
  • Stickler Syndrome
  • Ataxia Telangiectasia
  • Kawasaki Disease
  • Batten Disease
  • Mucolipidosis IV
  • Klippel-Feil Syndrome
  • Multiple Endocrine Neoplasia
  • Atypical Hemolytic Uremic Syndrome
  • Undiagnosed
  • Uncommon Disease
  • Kabuki Syndrome
  • Hypersomnia
  • Hyperacusis
  • Kleine-Levin Syndrome
  • Marinesco-Sjogren Syndrome
  • Leiomyosarcoma
  • 4p-/Wolf-Hirschhorn Syndrome
  • Hypophosphatasia
  • Narcolepsy
  • Wiedermann-Steiner Syndrome
  • Breast Implant-Associated Anaplastic Large Cell Lymphoma
  • Autoimmune/inflammatory Syndrome Induced by Adjuvants (ASIA)
  • Hemophagocytic Lymphohistiocytosis (HLH)
  • Behcet's Disease
  • Alagille Syndrome
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)
  • Lowe Syndrome
  • Pitt Hopkins Syndrome
  • 1p36 deletion syndrome
  • Jansen metaphyseal chondrodysplasia
  • Cockayne Syndrome
  • Chronic recurrent multifocal osteomyelitis (CRMO)
  • Malan syndrome
  • Hereditary Sensory and Autonomic Neuropathy
  • Cystinosis
  • Juvenile nephropathic cystinosis
  • Nephropathic infantile cystinosis
  • Ocular cystinosis
  • Kennedy disease
  • Spinal Bulbar Muscular Atrophy (SBMA)
  • SMC1A Truncated Mutations (causing loss of gene function)
  • Leigh syndrome
  • Warburg Micro Syndrome
  • Mucolipidosis
  • Mitochondrial aminoacyl-tRNA synthetases (Mt-aaRS Disorders)
  • Shine Syndrome
  • Hypertrophic Olivary Degeneration
  • Non-Ketotic Hyperglycinemia
  • Intestinal Bromhidrosis Syndrome
  • Fish odor syndrome
  • Autosomal recessive extra oral halitosis
  • CACNA1H mutation
  • Dimethylglycine dehydrogenase deficiency

Additional Relevant MeSH Terms

  • Rare Disorders
  • Undiagnosed Disorders
  • Disorders of Unknown Prevalence
  • Cornelia De Lange Syndrome
  • Prenatal Benign Hypophosphatasia
  • Perinatal Lethal Hypophosphatasia
  • Odontohypophosphatasia
  • Adult Hypophosphatasia
  • Childhood-onset Hypophosphatasia
  • Infantile Hypophosphatasia
  • Hypophosphatasia
  • Kabuki Syndrome
  • Bohring-Opitz Syndrome
  • Narcolepsy Without Cataplexy
  • Narcolepsy-cataplexy
  • Hypersomnolence Disorder
  • Idiopathic Hypersomnia Without Long Sleep Time
  • Idiopathic Hypersomnia With Long Sleep Time
  • Idiopathic Hypersomnia
  • Kleine-Levin Syndrome
  • Kawasaki Disease
  • Leiomyosarcoma
  • Leiomyosarcoma of the Corpus Uteri
  • Leiomyosarcoma of the Cervix Uteri
  • Leiomyosarcoma of Small Intestine
  • Acquired Myasthenia Gravis
  • Addison Disease
  • Hyperacusis (Hyperacousis)
  • Juvenile Myasthenia Gravis
  • Transient Neonatal Myasthenia Gravis
  • Williams Syndrome
  • Lyme Disease
  • Myasthenia Gravis
  • Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)
  • Isolated Klippel-Feil Syndrome
  • Frasier Syndrome
  • Denys-Drash Syndrome
  • Beckwith-Wiedemann Syndrome
  • Emanuel Syndrome
  • Isolated Aniridia
  • Axenfeld-Rieger Syndrome
  • Aniridia-intellectual Disability Syndrome
  • Aniridia - Renal Agenesis - Psychomotor Retardation
  • Aniridia - Ptosis - Intellectual Disability - Familial Obesity
  • Aniridia - Cerebellar Ataxia - Intellectual Disability
  • Aniridia - Absent Patella
  • Aniridia
  • Peters Anomaly - Cataract
  • Peters Anomaly
  • Potocki-Shaffer Syndrome
  • Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11
  • Silver-Russell Syndrome Due to Imprinting Defect of 11p15
  • Silver-Russell Syndrome Due to 11p15 Microduplication
  • Syndromic Aniridia
  • WAGR Syndrome
  • Wolf-Hirschhorn Syndrome
  • 4p16.3 Microduplication Syndrome
  • 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome
  • Autosomal Recessive Stickler Syndrome
  • Stickler Syndrome Type 2
  • Stickler Syndrome Type 1
  • Stickler Syndrome
  • Mucolipidosis Type 4
  • X-linked Spinocerebellar Ataxia Type 4
  • X-linked Spinocerebellar Ataxia Type 3
  • X-linked Intellectual Disability - Ataxia - Apraxia
  • X-linked Progressive Cerebellar Ataxia
  • X-linked Non Progressive Cerebellar Ataxia
  • X-linked Cerebellar Ataxia
  • Vitamin B12 Deficiency Ataxia
  • Toxic Exposure Ataxia
  • Unclassified Autosomal Dominant Spinocerebellar Ataxia
  • Thyroid Antibody Ataxia
  • Sporadic Adult-onset Ataxia of Unknown Etiology
  • Spinocerebellar Ataxia With Oculomotor Anomaly
  • Spinocerebellar Ataxia With Epilepsy
  • Spinocerebellar Ataxia With Axonal Neuropathy Type 2
  • Spinocerebellar Ataxia Type 8
  • Spinocerebellar Ataxia Type 7
  • Spinocerebellar Ataxia Type 6
  • Spinocerebellar Ataxia Type 5
  • Spinocerebellar Ataxia Type 4
  • Spinocerebellar Ataxia Type 37
  • Spinocerebellar Ataxia Type 36
  • Spinocerebellar Ataxia Type 35
  • Spinocerebellar Ataxia Type 34
  • Spinocerebellar Ataxia Type 32
  • Spinocerebellar Ataxia Type 31
  • Spinocerebellar Ataxia Type 30
  • Spinocerebellar Ataxia Type 3
  • Spinocerebellar Ataxia Type 29
  • Spinocerebellar Ataxia Type 28
  • Spinocerebellar Ataxia Type 27
  • Spinocerebellar Ataxia Type 26
  • Spinocerebellar Ataxia Type 25
  • Spinocerebellar Ataxia Type 23
  • Spinocerebellar Ataxia Type 22
  • Spinocerebellar Ataxia Type 21
  • Spinocerebellar Ataxia Type 20
  • Spinocerebellar Ataxia Type 2
  • Spinocerebellar Ataxia Type 19/22
  • Spinocerebellar Ataxia Type 18
  • Spinocerebellar Ataxia Type 17
  • Spinocerebellar Ataxia Type 16
  • Spinocerebellar Ataxia Type 15/16
  • Spinocerebellar Ataxia Type 14
  • Spinocerebellar Ataxia Type 13
  • Spinocerebellar Ataxia Type 12
  • Spinocerebellar Ataxia Type 11
  • Spinocerebellar Ataxia Type 10
  • Spinocerebellar Ataxia Type 1 With Axonal Neuropathy
  • Spinocerebellar Ataxia Type 1
  • Spinocerebellar Ataxia - Unknown
  • Spinocerebellar Ataxia - Dysmorphism
  • Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature
  • Spasticity-ataxia-gait Anomalies Syndrome
  • Spastic Ataxia With Congenital Miosis
  • Spastic Ataxia - Corneal Dystrophy
  • Spastic Ataxia
  • Rare Hereditary Ataxia
  • Rare Ataxia
  • Recessive Mitochondrial Ataxia Syndrome
  • Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature
  • Posterior Column Ataxia - Retinitis Pigmentosa
  • Post-Stroke Ataxia
  • Post-Head Injury Ataxia
  • Post Vaccination Ataxia
  • Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract
  • Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus
  • Non-hereditary Degenerative Ataxia
  • Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity
  • Olivopontocerebellar Atrophy - Deafness
  • NARP Syndrome
  • Myoclonus - Cerebellar Ataxia - Deafness
  • Multiple System Atrophy, Parkinsonian Type
  • Multiple System Atrophy, Cerebellar Type
  • Multiple System Atrophy
  • Maternally-inherited Leigh Syndrome
  • Machado-Joseph Disease Type 3
  • Machado-Joseph Disease Type 2
  • Machado-Joseph Disease Type 1
  • Leigh Syndrome
  • Late-onset Ataxia With Dementia
  • Infection or Post Infection Ataxia
  • GAD Ataxia
  • Hereditary Episodic Ataxia
  • Gliadin/Gluten Ataxia
  • Friedreich Ataxia
  • Fragile X-associated Tremor/Ataxia Syndrome
  • Familial Paroxysmal Ataxia
  • Exposure to Medications Ataxia
  • Episodic Ataxia With Slurred Speech
  • Episodic Ataxia Unknown Type
  • Episodic Ataxia Type 7
  • Episodic Ataxia Type 6
  • Episodic Ataxia Type 5
  • Episodic Ataxia Type 4
  • Episodic Ataxia Type 3
  • Episodic Ataxia Type 1
  • Epilepsy and/or Ataxia With Myoclonus as Major Feature
  • Early-onset Spastic Ataxia-neuropathy Syndrome
  • Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity
  • Early-onset Cerebellar Ataxia With Retained Tendon Reflexes
  • Early-onset Ataxia With Dementia
  • Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
  • Dilated Cardiomyopathy With Ataxia
  • Cataract - Ataxia - Deafness
  • Cerebellar Ataxia, Cayman Type
  • Cerebellar Ataxia With Peripheral Neuropathy
  • Cerebellar Ataxia - Hypogonadism
  • Cerebellar Ataxia - Ectodermal Dysplasia
  • Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss
  • Brain Tumor Ataxia
  • Brachydactyly - Nystagmus - Cerebellar Ataxia
  • Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia
  • Autosomal Recessive Syndromic Cerebellar Ataxia
  • Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
  • Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
  • Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria
  • Autosomal Recessive Spastic Ataxia
  • Autosomal Recessive Metabolic Cerebellar Ataxia
  • 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 Ataxia Due to PEX10 Deficiency
  • Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia
  • Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency
  • Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency
  • Autosomal Recessive Congenital Cerebellar Ataxia
  • Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome
  • Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency
  • Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency
  • Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency
  • Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome
  • Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity
  • Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency
  • Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect
  • Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion
  • Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation
  • Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness
  • Autosomal Recessive Cerebellar Ataxia
  • Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly
  • Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation
  • Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy
  • Autosomal Dominant Spastic Ataxia Type 1
  • Autosomal Dominant Spastic Ataxia
  • Autosomal Dominant Optic Atrophy
  • Ataxia-telangiectasia Variant
  • Ataxia-telangiectasia
  • Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy
  • Autosomal Dominant Cerebellar Ataxia Type 4
  • Autosomal Dominant Cerebellar Ataxia Type 3
  • Autosomal Dominant Cerebellar Ataxia Type 2
  • Autosomal Dominant Cerebellar Ataxia Type 1
  • Autosomal Dominant Cerebellar Ataxia
  • Ataxia-telangiectasia-like Disorder
  • Ataxia With Vitamin E Deficiency
  • Ataxia With Dementia
  • Ataxia - Oculomotor Apraxia Type 1
  • Ataxia - Other
  • Ataxia - Genetic Diagnosis - Unknown
  • Acquired Ataxia
  • Adult-onset Autosomal Recessive Cerebellar Ataxia
  • Alcohol Related Ataxia
  • Multiple Endocrine Neoplasia
  • Multiple Endocrine Neoplasia Type II
  • Multiple Endocrine Neoplasia Type 1
  • Multiple Endocrine Neoplasia Type 2
  • Multiple Endocrine Neoplasia, Type IV
  • Multiple Endocrine Neoplasia, Type 3
  • Multiple Endocrine Neoplasia (MEN) Syndrome
  • Multiple Endocrine Neoplasia Type 2B
  • Multiple Endocrine Neoplasia Type 2A
  • Atypical Hemolytic Uremic Syndrome
  • Atypical HUS
  • Wiedemann-Steiner Syndrome
  • Breast Implant-Associated Anaplastic Large Cell Lymphoma
  • Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA)
  • Hemophagocytic Lymphohistiocytosis
  • Behcet's Disease
  • Alagille Syndrome
  • Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD)
  • Lowe Syndrome
  • Pitt Hopkins Syndrome
  • 1p36 Deletion Syndrome
  • Jansen Type Metaphyseal Chondrodysplasia
  • Cockayne Syndrome
  • Chronic Recurrent Multifocal Osteomyelitis
  • CRMO
  • Malan Syndrome
  • Hereditary Sensory and Autonomic Neuropathy Type Ie
  • VCP Disease
  • Hypnic Jerking
  • Sleep Myoclonus
  • Mollaret Meningitis
  • Recurrent Viral Meningitis
  • CRB1
  • Leber Congenital Amaurosis
  • Retinitis Pigmentosa
  • Rare Retinal Disorder
  • KCNMA1-Channelopathy
  • Primary Biliary Cirrhosis
  • ZMYND11
  • Transient Global Amnesia
  • Glycogen Storage Disease
  • Alstrom Syndrome
  • White Sutton Syndrome
  • DNM1
  • EIEE31
  • Myhre Syndrome
  • Recurrent Respiratory Papillomatosis
  • Laryngeal Papillomatosis
  • Tracheal Papillomatosis
  • Refsum Disease
  • Nicolaides Baraitser Syndrome
  • Leukodystrophy
  • Tango2
  • Cauda Equina Syndrome
  • Rare Gastrointestinal Disorders
  • Achalasia-Addisonian Syndrome
  • Achalasia Cardia
  • Achalasia Icrocephaly Syndrome
  • Anal Fistula
  • Congenital Sucrase-Isomaltase Deficiency
  • Eosinophilic Gastroenteritis
  • Idiopathic Gastroparesis
  • Hirschsprung Disease
  • Rare Inflammatory Bowel Disease
  • Intestinal Pseudo-Obstruction
  • Scleroderma
  • Short Bowel Syndrome
  • Sacral Agenesis
  • Sacral Agenesis Syndrome
  • Caudal Regression
  • Scheuermann Disease
  • SMC1A Truncated Mutations (Causing Loss of Gene Function)
  • Cystinosis
  • Juvenile Nephropathic Cystinosis
  • Nephropathic Cystinosis
  • Kennedy Disease
  • Spinal Bulbar Muscular Atrophy
  • Warburg Micro Syndrome
  • Mucolipidoses
  • Mitochondrial Diseases
  • Mitochondrial Aminoacyl-tRNA Synthetases
  • Mt-aaRS Disorders
  • Hypertrophic Olivary Degeneration
  • Non-Ketotic Hyperglycinemia
  • Fish Odor Syndrome
  • Halitosis
  • Isolated Congenital Asplenia
  • Lambert Eaton (LEMS)
  • Biliary Atresia
  • STAG1 Gene Mutation
  • Coffin Lowry Syndrome
  • Borjeson-Forssman-Lehman Syndrome
  • Blau Syndrome
  • Arginase 1 Deficiency
  • HSPB8 Myopathy
  • Beta-Mannosidosis
  • TBX4 Syndrome
  • DHDDS Gene Mutations
  • MAND-MBD5-Associated Neurodevelopmental Disorder
  • Constitutional Mismatch Repair Deficiency (CMMRD)
  • SPATA5 Disorder
  • SPATA5L1 Related Disorder