[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"autosomal-recessive-cerebellar-ataxia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:autosomal-recessive-cerebellar-ataxia":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,45],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":28,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":33,"lastUpdatePostDateStruct":34,"startDateStruct":37,"completionDateStruct":39,"leadSponsor":41,"locationsCount":44},"100382553","validation-of-the-radial-algorithm-for-diagnosis-of-autosomal-recessive-cerebellar-ataxia-100382553",false,"NCT04261127","Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia","RADIAL-VALID","Inclusion Criteria:\n\n\\- For patients:\n\n1. Patient, male or female, over 5 years old (no upper age limit)\n2. Patient with cerebellar ataxia who started before the age of 40\n3. Patient with a family history compatible with autosomal recessive inheritance (sporadic case, consanguinity, several cases in siblings)\n4. Patient in which an acquired cause of cerebellar ataxia has been excluded\n5. Patient whose genetic diagnosis is unknown (NB: patients with a known negative result for the Friedreich's disease gene are eligible for inclusion))\n6. For patients over 18 years old: patient speaking and reading French, able to give a signed and dated informed consent to participate in the study.\n\n   Patients who have reached the age of majority and whose DNA has been banked and who have signed a consent form authorizing the subsequent use of this DNA for research purposes, including genetic analysis of cerebellar ataxias or associated pathologies, and for whom the RADIAL information sheet can be completed in full, are eligible for inclusion.\n7. For patient under 18 years old: Tutor or person with parental authority must speak French and be able to give a signed and dated informed consent for the minor patient.\n\n   Patients who are minors, whose DNA has been banked and for whom the parental authority has signed a consent form authorizing the subsequent use of this DNA for research purposes, including genetic analysis of cerebellar ataxias or associated pathologies, and for whom the RADIAL information sheet can be completed, are eligible.\n8. Patient affiliated to the French national health insurance\n\n   \\- For relatives:\n9. Male or female, over 18 years old (no upper age limit)\n10. Biological father or mother of a patient included in RADIAL-VALID research protocol\n11. (for prospective inclusion only) To be available for a visit to the participating center where the child is being followed\n12. Speaking and reading French, able to give a signed and dated informed consent to participate in the study\n13. Subject affiliated to the French national health insurance\n\n    Exclusion Criteria:\n\n    \\- For patients:\n14. Patient in whom targeted sequencing of a panel of PMDA genes and\u002For exome\u002Fgenome sequencing have already been performed.\n\n    * For patients and related:\n15. Subject of a legal protection measure\n16. Subject in exclusion period (determined by previous or current study)",true,"ALL","5 Years",{"count":20,"type":21},400,"ESTIMATED","INTERVENTIONAL",[24],"NA","RADIAL is an algorithm which has been developed following a review of the literature on 67 autosomal recessive cerebellar ataxias (ARCA) and personal clinical experience. Frequency and specificity of each feature were defined for each autosomal recessive cerebellar ataxia, and corresponding prediction scores were assigned. Clinical and paraclinical features of patients are entered into the algorithm, and a patient's total score for each ARCA is calculated, producing a ranking of possible diagnoses. Sensitivity and specificity of the algorithm were assessed by blinded analysis of a multinational cohort of 834 patients with molecularly confirmed autosomal recessive cerebellar ataxia. The performance of the algorithm was assessed versus a blinded panel of autosomal recessive cerebellar ataxia experts. The correct diagnosis was ranked within the top 3 highest-scoring diagnoses at a sensitivity and specificity of \\>90% for 84% and 91% of the evaluated genes, respectively. Mean sensitivity and specificity of the top 3 highest-scoring diagnoses were 92% and 95%, respectively. Our aim is now to validate in a prospective cohort of ARCA, the performance of RADIAL to predict the correct genetic diagnosis.",[27],"Autosomal Recessive Cerebellar Ataxia",[29,30,31],"autosomal recessive cerebellar ataxia","algorithm","genetic diagnosis","RECRUITING","2025-08-20",{"date":35,"type":36},"2025-08-27","ACTUAL",{"date":38,"type":36},"2021-09-20",{"date":40,"type":21},"2029-09",{"name":42,"class":43},"University Hospital, Strasbourg, France","OTHER",8,{"id":46,"slug":47,"hasResults":11,"nctId":48,"briefTitle":49,"officialTitle":50,"acronym":51,"eligibilityCriteria":52,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":53,"targetDuration":55,"studyType":56,"phases":4,"briefSummary":57,"conditions":58,"keywords":401,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":444,"lastUpdatePostDateStruct":445,"startDateStruct":447,"completionDateStruct":449,"leadSponsor":451,"locationsCount":5},"100193378","rare-disease-patient-registry--natural-history-study---coordination-of-rare-diseases-at-sanford-100193378","NCT01793168","Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford","Coordination of Rare Diseases at Sanford","CoRDS","Inclusion Criteria:\n\n* Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an unaffected carrier of a rare\u002Funcommon disease\n\nExclusion Criteria:\n\n* Diagnosis of a disease which is not rare",{"count":54,"type":21},20000,"100 Years","OBSERVATIONAL","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\u002FCoRDS to enroll.",[59,60,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98,99,100,101,102,103,104,105,106,107,108,109,110,111,112,113,114,115,116,117,118,119,120,121,122,123,124,125,126,127,128,129,130,131,132,133,134,135,136,137,138,139,140,141,142,143,144,145,146,147,148,149,150,151,152,153,154,155,156,157,158,159,160,161,162,163,164,165,166,167,168,169,170,171,172,173,174,175,176,177,178,179,180,181,182,183,184,185,186,187,188,189,190,191,192,193,194,195,196,197,198,199,200,201,202,203,204,205,206,207,208,209,210,211,212,213,214,215,216,217,218,219,220,221,222,223,224,225,226,227,228,229,230,231,232,233,234,235,236,237,238,239,240,241,242,243,244,245,246,247,248,249,250,251,252,253,254,255,256,257,258,27,259,260,261,262,263,264,265,266,267,268,269,270,271,272,273,274,275,276,277,278,279,280,281,282,283,284,285,286,287,288,289,290,291,292,293,294,295,296,297,298,299,300,301,302,303,304,305,306,307,308,309,310,311,312,313,314,315,316,317,318,319,320,321,322,323,324,325,326,327,328,329,330,331,332,333,334,335,336,337,338,339,340,341,342,343,344,345,346,347,348,349,350,351,352,353,354,355,356,357,358,359,360,361,362,363,364,365,366,367,368,369,370,371,372,373,374,375,376,377,378,379,380,381,382,383,384,385,386,387,388,389,390,391,392,393,394,395,396,397,398,399,400],"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\u002F22","Spinocerebellar Ataxia Type 18","Spinocerebellar Ataxia Type 17","Spinocerebellar Ataxia Type 16","Spinocerebellar Ataxia Type 15\u002F16","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\u002For 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\u002For 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\u002FGluten Ataxia","Friedreich Ataxia","Fragile X-associated Tremor\u002FAtaxia 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\u002For 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","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\u002FInflammatory 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","Acrodysostosis","Multi-systematic Smooth Muscle Dysfunction Syndrome","CRELD1 (Cysteine Rich With EGF Like Domains 1)","GNB1 Syndrome","Pyruvate Dehydrogenase Complex Deficiency Disease","Beta Mannosidosis","Kbg Syndrome","Labrune Syndrome","Metachromatic Leukodystrophy (MLD)","Moyamoya Disease","OPHN1 Syndrome","Oculopharyngeal Muscular Dystrophy (OPMD)","TUBB3 Mutation","WOREE (WWOX-related Epileptic Encephalopathy","SCAR12","Skraban-Deardorff Syndrome","Hereditary Myopathy With Early Respiratory Failure",[402,403,404,405,406,113,407,408,120,409,79,410,411,412,282,291,413,414,70,415,416,78,417,80,418,69,419,420,294,421,422,297,298,423,300,301,424,425,304,426,427,428,354,429,430,431,432,433,434,435,359,436,437,438,364,365,439,440,441,442,443],"Rare Diseases","Neglected Diseases","Orphan Diseases","Rare Disease Research","Registries","Ataxia","Cornelia de Lange Syndrome","Ataxia Telangiectasia","Batten Disease","Mucolipidosis IV","Klippel-Feil Syndrome","Undiagnosed","Uncommon Disease","Hypersomnia","Hyperacusis","Marinesco-Sjogren Syndrome","4p-\u002FWolf-Hirschhorn Syndrome","Narcolepsy","Wiedermann-Steiner Syndrome","Autoimmune\u002Finflammatory Syndrome Induced by Adjuvants (ASIA)","Hemophagocytic Lymphohistiocytosis (HLH)","Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)","1p36 deletion syndrome","Jansen metaphyseal chondrodysplasia","Chronic recurrent multifocal osteomyelitis (CRMO)","Malan syndrome","Hereditary Sensory and Autonomic Neuropathy","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","Mucolipidosis","Mitochondrial aminoacyl-tRNA synthetases (Mt-aaRS Disorders)","Shine Syndrome","Intestinal Bromhidrosis Syndrome","Fish odor syndrome","Autosomal recessive extra oral halitosis","CACNA1H mutation","Dimethylglycine dehydrogenase deficiency","2025-05-22",{"date":446,"type":36},"2025-05-29",{"date":448,"type":36},"2010-07",{"date":450,"type":21},"2100-12",{"name":452,"class":43},"Sanford Health"]