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

Coordination of Rare Diseases at Sanford

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.

Study Overview

• Status: Recruiting
• Conditions: Mitochondrial Diseases; Retinitis Pigmentosa; Myasthenia Gravis; Eosinophilic Gastroenteritis; Moyamoya Disease; Multiple System Atrophy; Leiomyosarcoma; Leukodystrophy; Anal Fistula; Spinocerebellar Ataxia Type 3; Friedreich Ataxia; Kennedy Disease; Lyme Disease; Hemophagocytic Lymphohistiocytosis; Spinocerebellar Ataxia Type 1; Spinocerebellar Ataxia Type 2; Spinocerebellar Ataxia Type 6; Williams Syndrome; Hirschsprung Disease; Glycogen Storage Disease; Kawasaki Disease; Short Bowel Syndrome; Hypophosphatasia; Leber Congenital Amaurosis; Halitosis; Achalasia Cardia; Multiple Endocrine Neoplasia; Leigh Syndrome; Addison Disease; Multiple Endocrine Neoplasia Type 2; Scleroderma; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2A; Multiple Endocrine Neoplasia Type 2B; Atypical Hemolytic Uremic Syndrome; Biliary Atresia; Spastic Ataxia; WAGR Syndrome; Aniridia; Transient Global Amnesia; Cauda Equina Syndrome; Refsum Disease; Recurrent Respiratory Papillomatosis; Kabuki Syndrome; Cystinosis; Idiopathic Hypersomnia; Behcet's Disease; Scheuermann Disease; Primary Biliary Cirrhosis; Beckwith-Wiedemann Syndrome; Intestinal Pseudo-Obstruction; Autosomal Recessive Cerebellar Ataxia; Idiopathic Gastroparesis; Pitt Hopkins Syndrome; Mucolipidoses; Alstrom Syndrome; Cockayne Syndrome; Fragile X-associated Tremor/Ataxia Syndrome; Laryngeal Papillomatosis; Spinocerebellar Ataxia Type 10; Narcolepsy Without Cataplexy; Rare Disorders; Pyruvate Dehydrogenase Complex Deficiency Disease; Hypersomnolence Disorder; Mucolipidosis Type 4; Chronic Recurrent Multifocal Osteomyelitis; Alagille Syndrome; Cornelia De Lange Syndrome; Metachromatic Leukodystrophy (MLD); Lowe Syndrome; Spinocerebellar Ataxia Type 7; Spinocerebellar Ataxia Type 8; Undiagnosed Disorders; Disorders of Unknown Prevalence; Prenatal Benign Hypophosphatasia; Perinatal Lethal Hypophosphatasia; Odontohypophosphatasia; Adult Hypophosphatasia; Childhood-onset Hypophosphatasia; Infantile Hypophosphatasia; Bohring-Opitz Syndrome; Narcolepsy-cataplexy; Idiopathic Hypersomnia Without Long Sleep Time; Idiopathic Hypersomnia With Long Sleep Time; Kleine-Levin Syndrome; Leiomyosarcoma of the Corpus Uteri; Leiomyosarcoma of the Cervix Uteri; Leiomyosarcoma of Small Intestine; Acquired Myasthenia Gravis; Hyperacusis (Hyperacousis); Juvenile Myasthenia Gravis; Transient Neonatal Myasthenia Gravis; Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome); Isolated Klippel-Feil Syndrome; Frasier Syndrome; Denys-Drash 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; 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; 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; 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 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 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 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 1 With Axonal Neuropathy; 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; 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; Maternally-inherited Leigh Syndrome; Machado-Joseph Disease Type 3; Machado-Joseph Disease Type 2; Machado-Joseph Disease Type 1; Late-onset Ataxia With Dementia; Infection or Post Infection Ataxia; GAD Ataxia; Hereditary Episodic Ataxia; Gliadin/Gluten Ataxia; 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 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 Type II; Multiple Endocrine Neoplasia, Type IV; Multiple Endocrine Neoplasia, Type 3; Multiple Endocrine Neoplasia (MEN) Syndrome; Atypical HUS; Wiedemann-Steiner Syndrome; Breast Implant-Associated Anaplastic Large Cell Lymphoma; Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA); Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD); 1p36 Deletion Syndrome; Jansen Type Metaphyseal Chondrodysplasia; CRMO; Malan Syndrome; Hereditary Sensory and Autonomic Neuropathy Type Ie; VCP Disease; Hypnic Jerking; Sleep Myoclonus; Mollaret Meningitis; Recurrent Viral Meningitis; CRB1; Rare Retinal Disorder; KCNMA1-Channelopathy; ZMYND11; White Sutton Syndrome; DNM1; EIEE31; Myhre Syndrome; Tracheal Papillomatosis; Nicolaides Baraitser Syndrome; Tango2; Rare Gastrointestinal Disorders; Achalasia-Addisonian Syndrome; Achalasia Icrocephaly Syndrome; Congenital Sucrase-Isomaltase Deficiency; Rare Inflammatory Bowel Disease; Sacral Agenesis; Sacral Agenesis Syndrome; Caudal Regression; SMC1A Truncated Mutations (Causing Loss of Gene Function); Juvenile Nephropathic Cystinosis; Nephropathic Cystinosis; Spinal Bulbar Muscular Atrophy; Warburg Micro Syndrome; Mitochondrial Aminoacyl-tRNA Synthetases; Mt-aaRS Disorders; Hypertrophic Olivary Degeneration; Non-Ketotic Hyperglycinemia; Fish Odor Syndrome; Labrune Syndrome; Beta Mannosidosis; Blau Syndrome; Isolated Congenital Asplenia; Lambert Eaton (LEMS); STAG1 Gene Mutation; Coffin Lowry Syndrome; Borjeson-Forssman-Lehman 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; Kbg Syndrome; Acrodysostosis; Multi-systematic Smooth Muscle Dysfunction Syndrome; CRELD1 (Cysteine Rich With EGF Like Domains 1); GNB1 Syndrome; OPHN1 Syndrome; Oculopharyngeal Muscular Dystrophy (OPMD); TUBB3 Mutation; WOREE (WWOX-related Epileptic Encephalopathy; SCAR12; Skraban-Deardorff Syndrome; Hereditary Myopathy With Early Respiratory Failure

Detailed Description

CoRDS collects contact, sociodemographic and health information about participants. This information is entered into CoRDS and linked to a unique coded identifier. Below are some examples of information requested on the Questionnaire that will be entered into CoRDS:

• Contact information: Name, Mailing Address, Phone Number, Email Address
• Sociodemographic information: Date of Birth, Place of Birth, Sex, Gender, Ethnicity
• Health information: Family History, Information related to Diagnosis

De-identified information in CoRDS will be made available to researchers, if they have obtained approval for their research project from (1) the Institutional Review Board (IRB) at the researcher's institution and (2) a panel of experts.

A subset of de-identified information collected from each profile may be shared with certain other databases. This is done in order to help improve understanding of rare diseases, to avoid the duplication of efforts and to collaborate with existing research efforts with organizations dedicated to rare diseases.

Participants may elect to have their information shared with patient advocacy groups (PAGs) representing individuals with rare or uncommon diseases who have partnered with CoRDS. The PAG will sign an agreement stating that they will not use the information for Research purposes. CoRDS personnel will not be held responsible for the use of information by the PAG.

The CoRDS Registry will not be paid by Researchers, Other Patient Registries or Patient Advocacy Groups (PAGs) for access to information in CoRDS.

If a parent/LAR consents on behalf of a minor, CoRDS will contact the participant when he or she reaches the age of 18 in order to obtain consent. If this consent is not obtained in a timely manner, the participant will be withdrawn from CoRDS.

CoRDS contacts participants annually to confirm continued interest in participation in CoRDS, and to request that participants update the information they have provided.

• Study Type: Observational
• Enrollment (Estimated): 20000

Contacts and Locations

• Study Contact: Name: CoRDS Team; Phone Number: 1-877-658-9192; Email: cords@sanfordhealth.org

Study Locations

• Australia
  • Sydney, Australia
    • Recruiting
    • Online Patient Enrollment System
    • Contact: CoRDS Team; Phone Number: 1-877-6589192; Email: cords@sanfordhealth.org
• United States
  • South Dakota
    • Sioux Falls, South Dakota, United States, 57104
      • Recruiting
      • Sanford Health
      • Contact: CoRDS Team; Phone Number: 1-877-658-9192; Email: cords@sanfordhealth.org
      • Principal Investigator: Benjamin Forred, MBA

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Unaffected carriers, undiagnosed and those with a rare disease or rare condition.

Description

Inclusion Criteria:

• Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an unaffected carrier of a rare/uncommon disease

Exclusion Criteria:

• Diagnosis of a disease which is not rare

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
To accelerate research into rare disorders by connecting individuals who are interested in research and who have been diagnosed with a rare disorder (or a disorder of unknown prevalence, or who are undiagnosed) with researchers who study rare diseases.	100 years

Collaborators and Investigators

• Sponsor: Sanford Health
• Collaborators: National Ataxia Foundation; Beyond Batten Disease Foundation; Pitt Hopkins Research Foundation; Cornelia de Lange Syndrome Foundation; International WAGR Syndrome Association; 4p- Support Group; ML4 Foundation; Stickler Involved People; Kawasaki Disease Foundation; Klippel-Feil Syndrome Alliance; Klippel-Feil Syndrome Freedom; Hyperacusis Research Limited; Hypersomnia Foundation; Kabuki Syndrome Network; Kleine-Levin Syndrome Foundation; Leiomyosarcoma Direct Research Foundation; Marinesco-Sjogren Syndrome Support Group - NORD; Mucolipidosis Type IV (ML4) Foundation; People with Narcolepsy 4 People with Narcolepsy (PWN4PWN); Soft Bones Incorporated; American Multiple Endocrine Neoplasia Support; Atypical Hemolytic Uremic Syndrome Foundation; All Things Kabuki; Wiedemann-Steiner Syndrome Foundation; Breast Implant Victim Advocates; PROS Foundation; American Behcet's Disease Association; Alstrom United Kingdom; Athymia; Curing Retinal Blindness Foundation; HSAN1E Society; 1p36 Deletion Support and Awareness; The Alagille Syndrome Alliance; Autoinflammatory Alliance; Bohring-Opitz Syndrome Foundation, INC; Cockayne Syndrome Network (Share and Care); CRMO Foundation; Cure VCP Disease,INC; FOD Support; Cystinosis Research Foundation; Global DARE Foundation; Hypnic Jerk-Sleep Myoclonus Support Group; Jansen's Foundation; KCNMA1 Channelopathy International Advocacy Foundation; Kawasaki Disease Foundation Australia; Life with LEMS Foundation; Lowe Syndrome Association; The Malan Syndrome Foundation; Maple Syrup Urine Disease Family Support Group; International Association for Muscle Glycogen Storage Disease (IamGSD); Myhre Syndrome Foundation; DNM1 Families; Nicolaides Baraitser Syndrome (NCBRS) Worldwide Foundation; The PBCers Organization; Recurrent Meningitis Association; Recurrent Respiratory Papillomatosis Foundation; Remember the Girls; Smith-Kingsmore Syndrome Foundation; SPG Research Foundation; Team Telomere; Transient Global Amnesia Project; The Charlotte & Gwenyth Gray Foundation; The Cute Syndrome Foundation; The Maddi Foundation; White Sutton Syndrome Foundation; Zmynd11 Gene Disorder; Cauda Equina Foundation, Inc; Tango2 Research Foundation; Noah's Hope - Hope4Bridget Foundation; Project Sebastian; SMC1A Epilepsy Foundation; International Foundation for Gastrointestinal Disorders; Endosalpingiosis Foundation, Inc; International Sacral Agenesis/Caudal Regression Association (ISACRA); Scheuermann's Disease Fund; Batten Disease Support and Research Association; Kennedy's Disease Association; Cure Mito Foundation; Warburg Micro Research Foundation; Cure Mucolipidosis; Riaan Research Initiative; CureARS A NJ Nonprofit Corporation; CACNA1H Alliance; IMBS Alliance; SHINE-Syndrome Foundaion; Non- Ketotic Hyperglycinemia (NKH) Crusaders; Hypertrophic Olivary Degeneration Association (HODA); National Organization for Disorders of the Corpus Callosum (NODCC); Team4Travis; Taylor's Tale Foundation; Lambert Eaton (LEMS) Family Association; BARE Inc; STAG1 Gene Foundation; Coffin Lowry Syndrome Foundation; BLFS Incorporate; Aniridia North America; Cure Blau Syndrome Foundation; ARG1D Foundation; CURE HSPB8 Myopathy; International Society of Mannosidosis and Related Disorders; TBX4Life; Cure DHDDS; MANDKind Foundation; Krishnan Family Foundation; SPATA Foundation; Acrodysostosis Support and Research; ACTA2 Alliance; ANA-Aniridia North America; CRELD1 Warriors; GNB1 Advocacy Group; Hope for PDCD Foundation; ISMRD - Beta Mannosidosis; KBG Syndrome Association; The LCC Foundation; MLD Foundation; MSA United Research Consortium; Moyamoya Foundation; OPMD Association; SKDEAS Foundation; The Foundation for Casey's Cure; TUBB3 Foundation; WWOX Foundation

Publications and helpful links

Helpful Links

• CoRDS homepage
• CoRDS Screening Form
• CoRDS Participant Login

Study record dates

Study Major Dates

• Study Start (Actual): July 1, 2010
• Primary Completion (Estimated): December 1, 2100
• Study Completion (Estimated): December 1, 2100

Study Registration Dates

• First Submitted: February 13, 2013
• First Submitted That Met QC Criteria: February 13, 2013
• First Posted (Estimated): February 15, 2013

Study Record Updates

• Last Update Posted (Actual): May 29, 2025
• Last Update Submitted That Met QC Criteria: May 22, 2025
• Last Verified: May 1, 2025

More Information

Terms related to this study

• Keywords: Rare Diseases; Hypophosphatasia; Atypical Hemolytic Uremic Syndrome; Registries; WAGR Syndrome; Kabuki Syndrome; Ataxia; Narcolepsy; Leiomyosarcoma; Multiple Endocrine Neoplasia; Batten Disease; Cockayne Syndrome; Hyperacusis; Hypersomnia; Lowe Syndrome; Neglected Diseases; Orphan Diseases; Rare Disease Research; Cornelia de Lange Syndrome; Stickler Syndrome; Ataxia Telangiectasia; Kawasaki Disease; Mucolipidosis IV; Klippel-Feil Syndrome; Undiagnosed; Uncommon Disease; Kleine-Levin Syndrome; Marinesco-Sjogren Syndrome; 4p-/Wolf-Hirschhorn Syndrome; 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); Pitt Hopkins Syndrome; 1p36 deletion syndrome; Jansen metaphyseal chondrodysplasia; 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: Vector Borne Diseases; Synucleinopathies; Aortic Valve Disease; Laminopathies; Ciliopathies; Primary Immunodeficiency Diseases; Neuroinflammatory Diseases; Urogenital Diseases; Cytopenia; Imprinting Disorders; Neurologic Manifestations; Endocrine System Diseases; Bone Diseases; Musculoskeletal Diseases; Mouth Diseases; Stomatognathic Diseases; Cerebrovascular Disorders; Central Nervous System Diseases; Nervous System Diseases; Vascular Diseases; Cardiovascular Diseases; Muscle Hypertonia; Neuromuscular Manifestations; Mental Disorders; Wounds and Injuries; Postoperative Complications; Pathologic Processes; Nutrition Disorders; Urogenital Neoplasms; Neoplasms by Site; Male Urogenital Diseases; Pathological Conditions, Anatomical; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Heart Diseases; Neuromuscular Diseases; Chronic Disease; Disease Attributes; Joint Diseases; Rheumatic Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Signs and Symptoms, Digestive; Intestinal Diseases; Autoimmune Diseases; Immune System Diseases; Infections; Virus Diseases; Respiratory Tract Diseases; Neoplasms by Histologic Type; Stomach Diseases; Neurobehavioral Manifestations; Neurocognitive Disorders; Rectal Diseases; Respiration Disorders; Eye Diseases; Hypersensitivity, Immediate; Hypersensitivity; Eosinophilia; Leukocyte Disorders; Hematologic Diseases; Autoimmune Diseases of the Nervous System; Demyelinating Diseases; Biliary Tract Diseases; Neurodegenerative Diseases; Liver Diseases; Neoplasms, Glandular and Epithelial; Colonic Diseases; Bone Diseases, Infectious; Spinal Diseases; Immunologic Deficiency Syndromes; Heart Valve Diseases; Sleep Wake Disorders; Esophageal Diseases; Gonadal Disorders; Skin Diseases; Corneal Diseases; Lymphatic Diseases; Lymphoproliferative Disorders; Immunoproliferative Disorders; Lymphoma, Non-Hodgkin; Renal Insufficiency; Malabsorption Syndromes; Bone Diseases, Metabolic; Urologic Neoplasms; Neoplasms, Squamous Cell; Musculoskeletal Abnormalities; Otorhinolaryngologic Diseases; Hernia; Vision Disorders; Sensation Disorders; Lymphoma; Cardiovascular Abnormalities; Bacterial Infections; Bacterial Infections and Mycoses; Skin Diseases, Vascular; Heart Defects, Congenital; Movement Disorders; Paraneoplastic Syndromes, Nervous System; Nervous System Neoplasms; Paraneoplastic Syndromes; Neuromuscular Junction Diseases; Gram-Negative Bacterial Infections; Borrelia Infections; Spirochaetales Infections; Tick-Borne Diseases; Heredodegenerative Disorders, Nervous System; Kidney Neoplasms; Sleep Disorders, Intrinsic; Dyssomnias; Trauma, Nervous System; Arthritis, Rheumatoid; Xerostomia; Salivary Gland Diseases; Dry Eye Syndromes; Lacrimal Apparatus Diseases; Neoplastic Syndromes, Hereditary; Neurocutaneous Syndromes; Lens Diseases; Ear Diseases; Lipid Metabolism Disorders; Adrenal Gland Diseases; Anemia, Hemolytic; Anemia; Skin Diseases, Genetic; Mental Retardation, X-Linked; Genetic Diseases, X-Linked; Aortic Valve Stenosis; Muscular Disorders, Atrophic; Sarcoma; Neoplasms, Connective and Soft Tissue; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Blood Platelet Disorders; Thrombotic Microangiopathies; Basal Ganglia Diseases; Optic Nerve Diseases; Cranial Nerve Diseases; Spinal Cord Diseases; TDP-43 Proteinopathies; Proteostasis Deficiencies; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Amino Acid Metabolism, Inborn Errors; Neoplasms, Muscle Tissue; Arterial Occlusive Diseases; Bile Duct Diseases; Skin Abnormalities; Neoplasms, Multiple Primary; Nervous System Malformations; Primary Dysautonomias; Autonomic Nervous System Diseases; Renal Insufficiency, Chronic; Disorders of Sex Development; Urogenital Abnormalities; Intestinal Obstruction; Dyskinesias; Neoplasms, Complex and Mixed; Hereditary Central Nervous System Demyelinating Diseases; Lipid Metabolism, Inborn Errors; Central Nervous System Viral Diseases; Central Nervous System Infections; Avitaminosis; Malnutrition; Disorder of Sex Development, 46,XY; Uveal Diseases; DNA Repair-Deficiency Disorders; Cardiomegaly; Vasculitis; Neural Tube Defects; Intracranial Arterial Diseases; Retinal Dystrophies; Hearing Disorders; Chromosome Disorders; Bone Diseases, Developmental; Motor Neuron Disease; Fibrosis; Psychomotor Disorders; Communication Disorders; Carotid Artery Diseases; Cerebral Arterial Diseases; Retinal Degeneration; Chromosome Aberrations; Esophageal Motility Disorders; Deglutition Disorders; Esophagitis; Ocular Motility Disorders; Metal Metabolism, Inborn Errors; Paralysis; Lysosomal Storage Diseases, Nervous System; Spinal Curvatures; Vestibulocochlear Nerve Diseases; Histiocytosis, Non-Langerhans-Cell; Pyruvate Metabolism, Inborn Errors; Histiocytosis; Nerve Compression Syndromes; Renal Tubular Transport, Inborn Errors; Language Disorders; Cholestasis, Intrahepatic; Cholestasis; Aphasia; Speech Disorders; Frontotemporal Lobar Degeneration; Cerebellar Diseases; Limb Deformities, Congenital; Hypotension; Digestive System Fistula; Liver Cirrhosis; Polyradiculoneuropathy; Muscular Atrophy, Spinal; Dysostoses; Dwarfism; Thrombocytopenia; Sphingolipidoses; Lipidoses; Urea Cycle Disorders, Inborn; Optic Atrophies, Hereditary; Lymphoma, T-Cell; Digestive System Abnormalities; Articulation Disorders; Fistula; Intestinal Fistula; Adrenal Insufficiency; Sulfatidosis; Hereditary Sensory and Motor Neuropathy; Iris Diseases; Uremia; Aortic Stenosis, Supravalvular; Ileus; Memory Disorders; Vitamin B Deficiency; Peroxisomal Disorders; Wilms Tumor; Megacolon; Osteochondrosis; Amino Acid Transport Disorders, Inborn; Spinal Osteochondrosis; Kyphosis; Kidney Failure, Chronic; Nondisjunction, Genetic; Cauda Equina Syndrome; Muscle Spasticity; Congenital Abnormalities; Neoplasms; Gastrointestinal Diseases; Digestive System Diseases; Arthritis; Syndrome; Retinal Diseases; Respiratory Insufficiency; Recurrence; Disease; Neurodevelopmental Disorders; Lyme Disease; Rare Diseases; Gastroenteritis; Polyneuropathies; Peripheral Nervous System Diseases; Sjogren's Syndrome; Cataract; Muscle Weakness; Cardiomyopathies; Hypertrophy; Muscular Dystrophies; Hypogonadism; Muscular Diseases; Lymphoma, Large-Cell, Anaplastic; Myasthenia Gravis; Atrophy; Leiomyosarcoma; Papilloma; Multiple System Atrophy; Shy-Drager Syndrome; Dementia; Intellectual Disability; Brain Diseases; Epilepsy; Frontotemporal Dementia; Aphasia, Primary Progressive; Pick Disease of the Brain; Leukoencephalopathies; Hemolysis; Cardiomyopathy, Dilated; Meningitis; Mucocutaneous Lymph Node Syndrome; Retinitis; Retinitis Pigmentosa; Muscular Atrophy; Inflammatory Bowel Diseases; Moyamoya Disease; Hypophosphatasia; Hearing Loss; Deafness; Hearing Loss, Sensorineural; Glycogen Storage Disease; Telangiectasis; Leigh Disease; Disorders of Excessive Somnolence; Liver Cirrhosis, Biliary; Short Bowel Syndrome; Ataxia; Cerebellar Ataxia; Spinocerebellar Ataxias; Spinocerebellar Degenerations; Williams Syndrome; Eosinophilic Esophagitis; Endocrine Gland Neoplasms; Cystinosis; Connective Tissue Diseases; Myoclonus; Fanconi Syndrome; Deficiency Diseases; Gastroparesis; Mitochondrial Diseases; Narcolepsy; Idiopathic Hypersomnia; Bulbo-Spinal Atrophy, X-Linked; Lymphohistiocytosis, Hemophagocytic; Arthrogryposis; Optic Atrophy; Optic Atrophy, Autosomal Dominant; Osteomyelitis; Corneal Dystrophies, Hereditary; Ataxia Telangiectasia; Craniocerebral Trauma; Friedreich Ataxia; Biliary Atresia; Alagille Syndrome; Apraxias; Dysarthria; Blindness; Nerve Degeneration; Cataplexy; Rectal Fistula; Leukodystrophy, Metachromatic; Refsum Disease; Mannosidase Deficiency Diseases; alpha-Mannosidosis; Hemolytic-Uremic Syndrome; Atypical Hemolytic Uremic Syndrome; Amnesia; Esophageal Achalasia; Cockayne Syndrome; Intestinal Pseudo-Obstruction; Multiple Endocrine Neoplasia; Abnormalities, Multiple; Retinal Detachment; Hyperargininemia; Osteochondrodysplasias; Eye Diseases, Hereditary; Eye Abnormalities; Aniridia; Mucolipidoses; Hyperacusis; Hereditary Sensory and Autonomic Neuropathies; Ectodermal Dysplasia; Leber Congenital Amaurosis; WAGR Syndrome; De Lange Syndrome; Multiple Endocrine Neoplasia Type 1; Pyruvate Dehydrogenase Complex Deficiency Disease; Vitamin B 12 Deficiency; Halitosis; Nystagmus, Pathologic; Muscular Dystrophy, Oculopharyngeal; Hyperglycinemia, Nonketotic; Vitamin E Deficiency; Addison Disease; Klippel-Feil Syndrome; Hirschsprung Disease; Channelopathies; Silver-Russell Syndrome; Beckwith-Wiedemann Syndrome; Machado-Joseph Disease; Amnesia, Transient Global; Scheuermann Disease; Multiple Endocrine Neoplasia Type 2a; Multiple Endocrine Neoplasia Type 2b; Craniofacial Abnormalities; Meningitis, Viral; Meningocele; Corneal Opacity; Denys-Drash Syndrome; Brachydactyly; Alstrom Syndrome; Oculocerebrorenal Syndrome; Kleine-Levin Syndrome; Cogan Syndrome; Olivopontocerebellar Atrophies; Coffin-Lowry Syndrome; Olivary Degeneration; Myasthenia Gravis, Neonatal; Frasier Syndrome; beta-Mannosidosis; Wolf-Hirschhorn Syndrome; Uniparental Disomy
• Other Study ID Numbers: 03-10-014; Hypersomnia Foundation (Registry Identifier: Hypersomnia Registry); National Ataxia Foundation (Registry Identifier: Ataxia Registry); 4p- Support Group (Registry Identifier: 4p-/Wolfhirschhorn Syndrome Registry); CdLS Foundation (Registry Identifier: Cornelia de Lange Syndrome Registry); Hyperacusis Research Limited (Registry Identifier: Hyperacusis Registry); Kabuki Syndrome Network (Registry Identifier: Kabuki Syndrome Registry); Kawasaki Disease Foundation (Registry Identifier: Kawasaki Disease Registry); Klippel-Feil Syndrome Freedom (Registry Identifier: Klippel-Feil Syndrome Registry); Leiomyosarcoma Direct Research (Registry Identifier: Leiomyosarcoma Registry); MSS Support Group (Registry Identifier: Marinesco-Sjogren Syndrome Registry); ML4 Foundation (Registry Identifier: Mucolipidosis Type IV (ML4) Registry); Stickler Involved People (Registry Identifier: Stickler Syndrome Registry); IWSA (Registry Identifier: WAGR Syndrome Registry); Soft Bones (Registry Identifier: Hypophosphatasia Registry); PWN4PWN (Registry Identifier: Narcolepsy Registry); aHUS (Registry Identifier: aHUS Registry); Klippel-Feil Syndrome Alliance (Registry Identifier: KFS Registry); American MEN Support (Registry Identifier: Mulitiple Endocrine Neoplasia Registry); Kleine-Levin Syndrome (Registry Identifier: Kleine-Levin Syndrome Registry); All Things Kabuki (Registry Identifier: Kabuki Syndrome Registry); WSS Foundation (Registry Identifier: White Sutton Syndrome Foundation Registry); BIVA (Registry Identifier: Brest Implant-Associated ALCL Registry); ABDA (Registry Identifier: American Bechet's Disease Association Registry); PROS Foundation (HLH) (Registry Identifier: (HLH) Registry); Alagille Syndrome Association (Registry Identifier: Alagillle Syndrome Registry); Cure VCP Disease, Inc. (Registry Identifier: IBMPFD Registry); Lowe Syndrome Association (Registry Identifier: Lowe Syndrome Registry); Pitt Hopkins (Registry Identifier: Pitt Hopkins Registry); Cure Batten Disease (Registry Identifier: Batten Disease Registry); Hypnic Jerk/Sleep Myoclonus (Registry Identifier: Hypnic Jerk/Sleep Myoclonus Registry); 1p36 DSA (Registry Identifier: 1p36 Deletion Syndrome Registry); Jansen Foundation (Registry Identifier: The Jansen Foundation Registry); Share and Care Network (Registry Identifier: Cockayne Syndrome Registry); CRMO (Registry Identifier: CRMO Registry); The Malan Syndrome Foundation (Registry Identifier: Malan Syndrome Registry); HSAN1E Society (Registry Identifier: HSAN1E Registry); Alstrom United Kingdomg (Registry Identifier: Alstrom United Kingdom Registry); Athymia (Registry Identifier: Athymia Registry); CRB1 Foundation (Registry Identifier: Curing Retinal Blindness Foundation Registry); DNM1 Families (Registry Identifier: DNM1 Mutations Registry); Global DARE Foundation (Registry Identifier: Global DARE Foundation Registry); KCIAF (Registry Identifier: KCNMA1 Channelopathy International Advocacy Foundation Registry); MSUD FSG (Registry Identifier: Maple Syrup Urine Disease Family Support Group Registry); IamGSD (Registry Identifier: International Association for Muscle Glycogen Storage Disease Registry); Myhre Syndrome Foundation (Registry Identifier: Myhre Syndrome Foundation Registry); NCBRS (Registry Identifier: Nicolaides Baraitser Syndrome Worldwide Foundation Registry); PBCers Organization (Registry Identifier: PBCers Organization Registry); Remember the Girls (Registry Identifier: Remember the Girls - X-Linked Carriers Registry); RRPF (Registry Identifier: Recurrent Respiratory Papillomatosis Foundation Registry); SKS Foundation (Registry Identifier: Smith-Kingsmore Syndrome Foundation Registry); SPG15 Research Foundation (Registry Identifier: SPG Research Foundation Registry); Team Telomere (Registry Identifier: Team Telomere Registry); TGA Project (Registry Identifier: Transient Global Amnesia Project Registry); The Cute Syndrome Foundation (Registry Identifier: The Cute Syndrome Foundation Registry); Zmynd11 Gene Disorder (Registry Identifier: Zmynd11 Gene Disorder Registry); SPG11 and SPG15 (Registry Identifier: The Maddi Foundation Registry); Endosalpingiosis Foundation (Registry Identifier: Endosalpingiosis Foundation, Inc Registry); Cauda Equina Foundation (Registry Identifier: Cauda Equina Foundation, Inc Registry); Tango2 Research Foundation (Registry Identifier: Tango2 Research Foundation Registry); SMC1A Epilepsy (Registry Identifier: SMC1A Epilepsy Foundation Registry); IFFGD (Registry Identifier: International Foundation for Gastrointestinal Disorders); Noah's Hope - Hope4Bridget (Registry Identifier: Noah's Hope - Hope4Bridget Foundation Registry); Project Sebastian (Registry Identifier: Project Sebastian Registry); ISACRA (Registry Identifier: International Sacral Agenesis/Caudal Regression Association (SACRA)); Scheuermann's Disease Fund (Registry Identifier: Scheuermann's Disease Fund Registry); BDSRA (Registry Identifier: Batten Disease Support and Research Association); Kennedy's Disease Assocation (Registry Identifier: Kennedy's Disease Association Registry); Cystinosis Research Foundation (Registry Identifier: Cystinosis Research Foundation Registry); Cure Mito Foundation (Registry Identifier: Cure Mito Foundation Registry); Warburg Micro Research (Registry Identifier: Warburg Micro Research Foundation Registry); Riaan Research Initiative (Registry Identifier: Riaan Research Initiative Registry); Cure Mucolipidosis (Registry Identifier: Cure Mucolipidosis Registry); CACNA1H Alliance (Registry Identifier: CACNA1H Alliance Registry); IMBS Alliance (Registry Identifier: IMBS Alliance Registry); Non-Ketotic Hyperglycinemia (Registry Identifier: NKH Crusaders Registry); Corpus Callosum Disorders (Registry Identifier: NODCC Registry); SHINE Syndrome Foundation (Registry Identifier: SHINE Syndrome Foundation Registry); HODA (Registry Identifier: HODA Registry); Team4Travis (Registry Identifier: Team4Travis Registry); Taylor's Tale Foundation (Registry Identifier: Taylor's Tale Foundation Registry); Lambert Eaton (LEMS) Family (Registry Identifier: (LEMS) Family Association Registry); BARE Inc. (Registry Identifier: BARE Inc. Registry); STAG1 Gene Foundation (Registry Identifier: STAG1 Gene Foundation Registry); Coffin Lowry Syndrome (Registry Identifier: CLS Foundation Registry); BLFS Incorporate (Registry Identifier: BLFS Incorporate Registry); Aniridia North America (Registry Identifier: Aniridia North America Registry); Cure Blau Syndrome Foundation (Registry Identifier: Cure Blau Syndrome Foundation Registry); ARG1D Foundation (Registry Identifier: ARG1D Foundation Registry); CURE HSPB8 Myopathy (Registry Identifier: CURE HSPB8 Myopathy Registry); ISMRD - Beta Mannosidosis (Registry Identifier: ISMRD - Beta Mannosidosis); TBX4Life (Registry Identifier: TBX4Life Registry); Cure DHDDS (Registry Identifier: Cure DHDDS Registry); MANDKind Foundation (Registry Identifier: MANDKind Foundation Registry); Krishnan Family Foundation (Registry Identifier: Krishnan Family Foundation Registry); SPATA Foundation (Registry Identifier: SPATA Foundation Registry); Acrodysostosis Research (Registry Identifier: 1. Acrodysostosis Support and Research Registry); ACTA2 Alliance (Registry Identifier: ACTA2 Alliance Registry); ANA-Aniridia North America (Registry Identifier: ANA-Aniridia North America Registry); APDS Advocacy Coalition (Registry Identifier: APDS Advocacy Coalition); CRELD1 Warriors (Registry Identifier: CRELD1 Warriors); GNB1 Advocacy Group (Registry Identifier: GNB1 Advocacy Group); Hope for PDCD Foundation (Registry Identifier: Hope for PDCD Foundation); KBG Syndrome Association (Registry Identifier: KBG Syndrome Association Registry); The LCC Foundation (Registry Identifier: The LCC Foundation Registry); MLD Foundation (Registry Identifier: MLD Foundation Registry); MSA United Research (Registry Identifier: MSA United Research Consortium Registry); Moyamoya Foundation (Registry Identifier: Moyamoya Foundation Registry); OPHN1 (Registry Identifier: OPHN1 Registry); OPMD Association (Registry Identifier: OPMD Association Registry); SKDEAS Foundation (Registry Identifier: SKDEAS Foundation Registry); Foundation for Casey's Cure (Registry Identifier: The Foundation for Casey's Cure Registry); TUBB3 Foundation (Registry Identifier: TUBB3 Foundation Registry); WWOX Foundation (Registry Identifier: WWOX Foundation Registry)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: Deidentified participant data is shared with contracted patient advocacy groups for non-research purposes. Parties interested in accessing data are welcome to apply (cost-free) at http://www.sanfordresearch.org/cords/researchers/.