[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"williams-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:williams-syndrome":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,9,0,[8,47,75,101,125,193,224,264,290],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":27,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":4,"leadSponsor":43,"locationsCount":46},"100143034","defining-the-brain-phenotype-of-children-with-williams-syndrome-100143034",false,"NCT01132885","Defining the Brain Phenotype of Children With Williams Syndrome","Defining the Brain Phenotype of Children With 7q11.23 Copy Number Variation, Including Williams Syndrome and 7q11.23 Duplication Syndrome","* INCLUSION CRITERIA:\n\nFor all participants, the following inclusion criteria will apply:\n\n1. Greater than 5 years old.\n2. Able to provide assent if below the age of 18, or consent if 18 years of age or older. Parents will provide consent for participants below the age of 18. For patients who do not have the capacity to provide informed consent, consent may be obtained from a guardian or the holder of the DPA.\n\nAdditionally, 7q11.23 CNV participants must have a typical, 7q11.23 CNV or other genetic abnormality in the Williams syndrome critical region of chromosome 7q11.23, and control participants must have normal intelligence.\n\nEXCLUSION CRITERIA:\n\nFor all participants who will participate in MRI scanning, the following exclusion criteria will apply:\n\n1. Any chronic or acute medical condition severe enough to interfere with task performance or interpretation of MRI data.\n2. Any medication that might interfere with task performance or interpretation of MRI data.\n3. Any medical condition that increases risk for MRI (e.g. pacemaker, metallic foreign body in eye or other body part, dental braces).\n4. Pregnancy (a urine pregnancy test will be performed prior to all MRI procedures for all females of child-bearing potential.\n5. NIMH employees and staff and their immediate family members will be excluded from the study per NIMH policy.\n\nFor parents who will undergo blood draws only, they will not be able to participate if they have a condition\n\nthat would make collecting blood unsafe.",true,"ALL","5 Years",{"count":20,"type":21},415,"ESTIMATED","OBSERVATIONAL","Background:\n\n\\- Little is known about how the brain changes during childhood and adolescence, how genes affect this process, or how the brains of people with 7q11.23 genetic variation change during this period. Researchers are interested in using magnetic resonance imaging to study how the brain changes in healthy children and children with 7q11.23 genetic variation, including Williams syndrome and 7q11.23 duplication syndrome.\n\nObjectives:\n\n\\- To study developmental changes in the brains of healthy children and children who have been diagnosed with Williams syndrome,7q11.23 duplication syndrome, or other 7q11.23 genetic variation.\n\nEligibility:\n\n* Healthy children and adolescents between 5 and 17 years of age.\n* Children and adolescents between 5 and 17 years of age who have been diagnosed with Williams syndrome, 7q11.23 duplication syndrome, or have other 7q11.23 genetic variation.\n\nDesign:\n\n* Participants will have a brief physical examination and tests of memory, attention, concentration, and thinking. Parents will be asked about their child s personality, behavior characteristics, and social interaction and communication skills.\n* Both participants and their parents may be asked to complete additional questionnaires or take various tests as required for the study.\n* Participants will have approximately 10 hours of magnetic resonance imaging (MRI) scanning, usually over 4 to 5 days, within a one month period. Some of these tests will require the participants to do specific tasks while inside the MRI scanner.\n* Participants will be asked to return to the National Institutes of Health clinical center to repeat these procedures every 2 years thereafter until age 18.",[25,26],"Williams Syndrome","Duplication",[28,29,30,26,31,32,25,33,34,35],"MRI","Developmental","Genetic abnormalities in chromosome 7q11.23.","Brain","Natural History","Children","Healthy Volunteer","HV","RECRUITING","2026-06-17",{"date":39,"type":40},"2026-06-18","ACTUAL",{"date":42,"type":40},"2011-01-23",{"name":44,"class":45},"National Institute of Mental Health (NIMH)","NIH",1,{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":51,"acronym":4,"eligibilityCriteria":52,"healthyVolunteers":16,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":53,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":55,"conditions":56,"keywords":60,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":65,"lastUpdatePostDateStruct":66,"startDateStruct":68,"completionDateStruct":70,"leadSponsor":72,"locationsCount":46},"100587594","characterization-and-natural-history-of-williams-syndrome-and-other-chromosome-7q1123-variants-100587594","NCT06930417","Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants","Inclusion Criteria:\n\n* clinical and\u002For molecular diagnosis of Williams syndrome (WS)\n* biological parents or siblings of individuals diagnosed with WS\n* molecular diagnosis of 7q11.23 duplication syndrome (Dup7)\n* molecular diagnosis of another abnormality in the 7q11.23 region\n\nExclusion Criteria:\n\n\\- No diagnosis of abnormalities in the 7q11.23 region, while not being a biological relative of affected individuals",{"count":54,"type":21},2000,"The goal of this observational natural history study is to better characterize development, transition to adulthood, health and behavior of individuals diagnosed with Williams syndrome (WS) or carrying other variants of 7q11.23 chromosome and to build a DNA and tissue biobank with samples donated by affected individuals. The study has multiple arms focused on different aspects of WS. Participants with genetic diagnosis of WS or other variants of 7q11.23 and their family members are eligible to participate. Study participants may participate in one or multiple arms of the study:\n\n1. Natural History Genotype-Phenotype Study to test the hypothesis that health, behavior, and developmental variability observed in WS is determined by genetic factors and to characterize those genetic changes. Participants of all ages are eligible to participate. Either a blood or saliva sample is required for participation.\n2. Biobank: the research team is building a biobank enabling the development of new laboratory tools and models to study WS and test new treatment approaches. A blood sample is required for participation. Participants of all ages are eligible to participate.\n3. Development arm of the study aims to delineate the development of language, cognition, personality, literacy and mathematics skills, and adaptive behavior from very early childhood through adulthood in individuals who have WS or Dup7. The purpose of this study also includes determining the predictors of specific aspects of development (e.g., word reading ability, language ability, spatial ability) for individuals with WS or Dup7. Affected individuals of all ages are eligible to participate.\n4. Transition to Adulthood study aims to understand how young adults with WS make a successful transition out of high school into adulthood and to help them in this journey by providing a comprehensive psychosocial transition coupled with a medical transition plan. Individuals ages 14-25 years old are eligible to participate. Study requires three in person visits.\n5. Health Outcomes, Resilience, Independence, and Executive functioning in Neurodevelopment (HORIZON) aims to characterize physical, mental health, cognitive, social, adaptive, aging, and quality of life outcomes for adults with WS, stress and resilience for caregivers, and the interplay between caregiver stress and resilience with outcomes for adults with WS.\n6. Sleep and Activity Study aims to expand knowledge on sleep difficulties experienced by individuals with WS and to better understand the connection between sleep, activity (movement through the day), prescribed medications and other traits in WS.",[57,25,58,59],"Williams Beuren Syndrome","Williams Beuren Region Duplication","Dup7",[61,59,62,63,64],"williams syndrome","svas","7q11.23","autism","2026-06-03",{"date":67,"type":40},"2026-06-08",{"date":69,"type":40},"2024-10-21",{"date":71,"type":21},"2045-10-21",{"name":73,"class":74},"University of Pennsylvania","OTHER",{"id":76,"slug":77,"hasResults":11,"nctId":78,"briefTitle":79,"officialTitle":79,"acronym":4,"eligibilityCriteria":80,"healthyVolunteers":16,"sex":17,"minAge":81,"maxAge":82,"enrollmentInfo":83,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":85,"conditions":86,"keywords":88,"overallStatus":91,"whyStopped":4,"lastUpdateSubmitDate":92,"lastUpdatePostDateStruct":93,"startDateStruct":95,"completionDateStruct":97,"leadSponsor":99,"locationsCount":4},"100634260","a-case-control-observational-study-of-peripheral-blood-derived-ipsc-models-to-investigate-oligodendrocyte-lineage-development-in-children-with-williams-syndrome-and-healthy-controls-100634260","NCT07537374","A Case-Control Observational Study of Peripheral Blood-Derived iPSC Models to Investigate Oligodendrocyte Lineage Development in Children With Williams Syndrome and Healthy Controls","Inclusion Criteria:\n\n1. The clinical diagnosis is Williams syndrome.\n2. Child subjects;\n3. The guardian signs the informed consent form. If necessary, the subject himself\u002Fherself signs the informed consent or the informed consent with additional consent.\n4. Be capable of completing peripheral blood collection;\n\nExclusion Criteria:\n\n1. Cases of severe infection, severe hematological diseases or other conditions that make blood collection inappropriate;\n2. Recent receipt of special treatments that may significantly affect the state of peripheral blood cells;\n3. Insufficient sample volume or poor sample quality that does not meet the requirements for reprogramming experiments;\n4. Guardians' refusal to allow the samples to be used for iPSC establishment and subsequent research;\n5. Other circumstances judged by the researchers as not suitable for inclusion in this study.","3 Years","12 Years",{"count":84,"type":21},6,"This study aims to collect peripheral blood samples from children with Williams syndrome (WS) and healthy children, establish a cell line of induced pluripotent stem cells (iPSCs) derived from the subjects, and further induce and differentiate them into neural progenitor cells (NPCs) and oligodendrocyte lineage cells for in vitro studies on the cellular and molecular mechanisms of WS-related neurodevelopmental abnormalities. Based on previous basic and pre-experimental results, the study focuses on the developmental transition of oligodendrocyte lineage from OPC to pre-OL, immature oligodendrocytes, and mature oligodendrocytes, and specifically evaluates the programs of myelin-related genes, differentiation trajectories, and abnormalities in related pathways such as GTF2I\u002FFZD9, ERK\u002FMAPK, and Wnt\u002Fβ-catenin. The study design is an independent donor case-control study, and it plans to include 3 children with WS and 3 healthy children. Each sample will be independently sequenced.",[25,87],"Induced Pluripotent Stem Cell (Ips Cell)",[89,90],"Williams syndrome","induced pluripotent stem cell (ips cell)","NOT_YET_RECRUITING","2026-04-15",{"date":94,"type":40},"2026-04-17",{"date":96,"type":21},"2026-04-01",{"date":98,"type":21},"2027-01-01",{"name":100,"class":74},"Qilu Hospital of Shandong University",{"id":102,"slug":103,"hasResults":11,"nctId":104,"briefTitle":105,"officialTitle":105,"acronym":106,"eligibilityCriteria":107,"healthyVolunteers":16,"sex":17,"minAge":81,"maxAge":82,"enrollmentInfo":108,"targetDuration":110,"studyType":22,"phases":4,"briefSummary":111,"conditions":112,"keywords":114,"overallStatus":91,"whyStopped":4,"lastUpdateSubmitDate":118,"lastUpdatePostDateStruct":119,"startDateStruct":121,"completionDateStruct":122,"leadSponsor":124,"locationsCount":46},"100632145","research-on-the-molecular-mechanism-of-cognitive-differences-between-williams-syndrome-and-autism-spectrum-disorder-100632145","NCT07509879","Research on the Molecular Mechanism of Cognitive Differences Between Williams Syndrome and Autism Spectrum Disorder","WS and ASD","Participants for Williams Syndrome Study\n\nInclusion criteria must all be met:\n\n1. Age 3-12 years old.\n2. Clinically diagnosed and confirmed by fluorescence in situ hybridization (FISH) test, with a typical microdeletion of approximately 1.55 Mb in the chromosome 7q11.23 region.\n3. Their legal guardians fully understand the study content and voluntarily sign the informed consent form, agreeing for the study participants to undergo blood sampling and genetic testing.\n\nParticipants for Autism Spectrum Disorder Study\n\nInclusion criteria must all be met:\n\n1. Age 3-12 years old.\n2. Clinically diagnosed according to the second edition of the Autism Diagnostic Observation Schedule (ADOS-2) criteria.\n3. Their legal guardians fully understand the study content and voluntarily sign the informed consent form, agreeing for the study participants to undergo blood sampling and genetic testing.\n\nParticipants for Healthy Children Study\n\nInclusion criteria must all be met:\n\n1. Age 3-12 years old, with gender as close as possible to the participants in the above two groups.\n2. No history of neurodevelopmental disorders, mental illnesses or major neurological diseases.\n3. Their legal guardians fully understand the study content and voluntarily sign the informed consent form, agreeing for the study participants to undergo blood sampling and genetic testing.\n\nCommon Exclusion Criteria for All Study Participants\n\nAny of the following conditions must be met to be excluded from the study:\n\n1. Specific medical conditions:\n2. For the Williams Syndrome group: Known or suspected presence of other pathogenic gene mutations\u002Fsyndromes other than the 7q11.23 microdeletion.\n3. For the Autism Spectrum Disorder group: Co-occurring other clearly diagnosed neurodevelopmental disorders (such as Rett syndrome, fragile X syndrome, etc.).\n4. Brain structural abnormalities: According to recent cranial MRI and interpretation by neuro-radiology experts, significant brain structural lesions are found (for the patient group, referring to lesions unrelated to Williams Syndrome or autism; for the healthy group, referring to any clinically significant abnormalities).\n5. Major systemic diseases: Presence of diseases with clinical significance as judged by the researchers, which may: affect the interpretation of study results, or endanger the safety of the study participants.",{"count":109,"type":21},75,"1 Month","Williams Syndrome (WS) is a rare neurodevelopmental disorder, usually caused by microdeletions of approximately 26 genes in the long arm (7q11.23) region of chromosome 7. Children with this syndrome often exhibit distinctive facial features, mild to moderate intellectual disability, impaired spatial cognition, pronounced social extraversion, and relatively reserved language-expression characteristics. Although individuals with WS often demonstrate strong social interest and prosocial behaviors, significant deficiencies in abstract thinking, executive function, and visuospatial ability are frequently observed. At present, treatment for WS mainly focuses on behavioral intervention and educational rehabilitation, and clear molecular or pharmacological treatment methods remain limited. Due to the \"opposite but related\" social-cognitive profile observed in comparison with autism spectrum disorder, in-depth exploration of neural and molecular mechanisms underlying these differences has substantial scientific significance for understanding the biological basis of social-cognitive impairment.",[25,113],"Autism Disorder",[25,115,116,117],"Autism Spectrum Disorder","Neuroimaging","Genetics","2026-03-29",{"date":120,"type":40},"2026-04-03",{"date":96,"type":21},{"date":123,"type":21},"2026-12-01",{"name":100,"class":74},{"id":126,"slug":127,"hasResults":11,"nctId":128,"briefTitle":129,"officialTitle":130,"acronym":131,"eligibilityCriteria":132,"healthyVolunteers":11,"sex":17,"minAge":133,"maxAge":82,"enrollmentInfo":134,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":136,"conditions":137,"keywords":159,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":184,"lastUpdatePostDateStruct":185,"startDateStruct":187,"completionDateStruct":189,"leadSponsor":191,"locationsCount":46},"100630855","intensive-multimodal-neurorehabilitation-targeting-neuroplasticity-in-pediatric-neurodevelopmental-and-chromosomal-disorders-100630855","NCT07493096","Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders","Functional and Neurodevelopmental Outcomes Following Intensive Multimodal Neurorehabilitation in Pediatric Patients With Neurodevelopmental Disorders, Including Chromosomal Abnormalities","GEN-HOPE","Inclusion Criteria:\n\n* Pediatric participants between approximately 4 and 12 years of age at the time of enrollment.\n* Diagnosed with or presenting with neurodevelopmental, neurologic, or genetic conditions, including but not limited to:\n\n  * cerebral palsy\n  * autism spectrum disorder\n  * developmental delay\n  * hypoxic ischemic encephalopathy (HIE)\n  * traumatic brain injury\n  * sensory processing disorder\n  * chromosomal or genetic abnormalities\n  * Demonstrate functional impairments in one or more neurodevelopmental domains, including:\n* motor coordination or motor planning\n* sensory processing\n* attention or executive functioning\n* oculomotor or visual processing\n* communication\n* emotional or behavioral regulation\n* activities of daily living\n* Enrolled in and able to participate in a two-week intensive therapy program consisting of approximately 2.5 hours per day\u002F 5 days per week\n\n  * Able to complete baseline and post-program clinical assessment using clinician-observed or caregiver-reported measures.\n  * Parent or legal guardian able to provide informed consent and participate in reporting functional outcomes when applicable.\n\nExclusion Criteria:\n\n* Medical instability or acute medical condition that would prevent safe participation in an intensive therapy program.\n* Severe uncontrolled seizure activity or other neurologic condition that would interfere with participation in structured therapeutic activities, as determined by the treating clinician.\n* Behavioral or psychological conditions that would prevent safe engagement in the therapy environment despite appropriate support.\n* Inability to attend or complete the full two-week intensive program.\n* Lack of sufficient baseline or post-intervention data to assess change in functional performance.\n* Concurrent participation in another structured intervention or clinical study that would confound interpretation of functional outcomes, at the discretion of the investigator.","4 Years",{"count":135,"type":21},100,"This observational study evaluates functional and developmental outcomes in pediatric participants undergoing a two week intensive multimodal neurorehabilitation program. The program is designed for children with neurodevelopmental disorders, including but not limited to cerebral palsy, autism spectrum disorder, developmental delay, hypoxic ischemic encephalopathy (HIE), and chromosomal or genetic abnormalities.\n\nParticipants receive individualized therapy sessions for approximately 2.5 hours per day over a two week period. The intervention is not standardized but is tailored to each child's specific needs and may include components such as sensory integration, motor planning, reflex integration, oculomotor training, executive functioning activities, communication support, and other brain based therapeutic approaches.\n\nThe purpose of this study is to observe changes in functional abilities, including attention, motor coordination, emotional regulation, communication, and activities of daily living. Outcomes are assessed using clinician observation and parent reported changes before and after the intensive program, with limited follow-up when available.\n\nThis study does not assign participants to a specific treatment as part of a research protocol. Instead, it collects real world data from children already participating in a clinical therapy program to better understand potential benefits of intensive, individualized neurorehabilitation approaches.",[138,139,140,141,142,143,144,145,146,115,147,148,149,150,151,152,153,154,155,156,25,157,158],"Neurodevelopmental Disorders","Neurodevelopmental Disorders (NDD)","Neurodevelopmental Disorders and Developmental Abnormalities","Developmental Delay (Disorder)","Cerebral Palsy (CP)","Cerebral Palsy Hemiparetic Cerebral Palsy Spasticity Gait Disorders, Neurologic Postural Balance Impairment","Cerebral Palsy Infantile","Cerebral Palsy Spastic Hemiplegic","Cerebral Palsy, Dyskinetic","Autism Spectrum Disorder (ASD","Hypoxic Ischemic Encephalopathy","Hypoxic Ischemic Encephalopathy (HIE)","Traumatic Brain Injury (TBI)","Sensory Processing Disorder","Chromosomal Abnormalities","Genetic Disorders","Down Syndrome (Trisomy 21)","Fragile X Syndrome (FXS)","RETT Syndrome With Proven MECP2 Mutation","22q11.2 Deletion Syndrome","Sensorimotor Integration",[160,161,162,163,164,165,166,167,168,169,170,171,172,173,174,175,176,177,138,178,179,180,181,182,183],"Photobiomodulation","Low-Level Laser Therapy","Vibration Therapy","Tactile Stimulation","Cognitive Training","Behavioral Therapy","Intensive Therapy","Pediatric Neurorehabilitation","Multimodal Therapy","Neuroplasticity","Sensory Integration","Reflex Integration","Motor Planning","Executive Function","Emotional Regulation","Functional Outcomes","Activities of Daily Living","High Frequency Therapy","Rehabilitation","Child Development Disorders","Occupational Therapy","Physical Therapy Modalities","Early Intervention","Cognitive Therapy","2026-03-19",{"date":186,"type":40},"2026-03-25",{"date":188,"type":40},"2026-03-01",{"date":190,"type":21},"2036-12-30",{"name":192,"class":74},"Healing Hope International",{"id":194,"slug":195,"hasResults":11,"nctId":196,"briefTitle":197,"officialTitle":198,"acronym":199,"eligibilityCriteria":200,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":201,"targetDuration":4,"studyType":203,"phases":204,"briefSummary":206,"conditions":207,"keywords":210,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":215,"lastUpdatePostDateStruct":216,"startDateStruct":218,"completionDateStruct":220,"leadSponsor":222,"locationsCount":46},"100115485","phase-4-the-psychiatric-and-cognitive-phenotypes-in-velocardiofacial-syndrome-100115485","NCT00768820","The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome","The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors","VCFS","Inclusion Criteria:\n\n* chromosomal deletion proven by FISH examination\n\nExclusion Criteria:",{"count":202,"type":21},400,"INTERVENTIONAL",[205],"PHASE4","The purpose of this study is to investigate the Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors",[208,25,209],"Velocardiofacial Syndrome","Fragile X Syndrome",[211,89,212,213,214],"Velocardiofacial syndrome","fragile X syndrome","cognitive phenotype","psychiatric phenotype","2026-03-17",{"date":217,"type":40},"2026-03-18",{"date":219,"type":4},"2001-05",{"date":221,"type":21},"2027-08",{"name":223,"class":74},"The Chaim Sheba Medical Center",{"id":225,"slug":226,"hasResults":11,"nctId":227,"briefTitle":228,"officialTitle":229,"acronym":230,"eligibilityCriteria":231,"healthyVolunteers":16,"sex":17,"minAge":232,"maxAge":4,"enrollmentInfo":233,"targetDuration":4,"studyType":203,"phases":235,"briefSummary":237,"conditions":238,"keywords":248,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":254,"lastUpdatePostDateStruct":255,"startDateStruct":257,"completionDateStruct":259,"leadSponsor":261,"locationsCount":263},"100572968","physical-activity-and-community-empowerment-project-100572968","NCT06740162","Physical Activity and Community EmPOWERment Project","A Stage 1 Pilot Test for Feasibility and Efficacy of a Multi-Level Intervention to Increase Physical Activity in Adults With Intellectual Disability: Physical Activity and Community EmPOWERment (PACE)","PACE","Inclusion criteria for adults with ID will include:\n\n* ages 18 and older with a prior clinical diagnosis of ID, confirmed by scores \\\u003C 70 and + 90% on the Leiter-3 International Performance Scales and\u002For an adaptive behavior measure using the Vineland Adaptive Behavior Scales,\n* Medical clearance to participate in moderate-to-vigorous physical activity as determined by the American College of Sports Medicine (ACSM) preparticipation algorithm,\n* Adult does not show clinically elevated symptoms of Alzheimer's Disease (AD)\u002F Alzheimer's Disease and Related Dementias (ADRD) as indicated by a score of \\\u003C 20 on the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities.\n* One caregiver\u002Fguardian is able and willing to participate.\n* must tolerate at least 8 hours of daily wear-time of Actigraph device during initial assessment period (4 of 7 days),\n* must average 20 minutes or less of moderate to vigorous physical activity (MVPA) minutes per day (140 MVPA minutes or less across 7-day period measured during the initial assessment period, and\n* must reside in North Carolina or Arkansas.\n\nExclusion Criteria for adults with ID:\n\n• Diagnosis of AD, dementia, or related disorders. Participants will not be excluded based on gender, race, or ethnicity. There will be no upper age limit due to the heterogeneity of onset of AD\u002FADRD in individuals with ID.\n\nInclusion criteria for coach will include:\n\n* access to the internet and a mobile device,\n* has weekly contact with the adult participant with ID,\n* can converse and read in English to comprehend intervention materials and website content, and\n* must reside in North Carolina or Arkansas\n\nInclusion criteria for caregiver will include:\n\n* ability to converse and read in English to comprehend and answer interview questions, (2) must care for an adult with ID who is willing to participate in the study,\n* must reside in North Carolina or Arkansas, and\n* must attend all study visits with adult with ID.","18 Years",{"count":234,"type":21},376,[236],"NA","Purpose: Conduct a wait-list randomized controlled trial (RCT) of an inclusive physical activity program called PACE for adults with intellectual disability (ID) who are not yet showing signs of Alzheimer's Disease (AD)\u002Fage-related dementias (ARD).\n\nParticipants: Participants include 120 adults with ID, their caregivers, and their coaches (up to 360 individual participants, grouped as triads), recruited through the University of North Carolina at Chapel Hill and the University of Arkansas. Participants also include 16 exercise professionals.\n\nProcedures (methods): Each cohort will include 20 triads who are randomly assigned to the PACE program or the waitlist control group.",[239,138,115,240,209,241,242,243,244,245,246,247,25],"Intellectual Disability","Down Syndrome","Cri-du-Chat Syndrome","De Lange Syndrome","Mental Retardation, X-Linked","Prader-Willi Syndrome","Rubinstein-Taybi Syndrome","Trisomy 13 Syndrome","WAGR Syndrome",[249,250,251,252,253],"physical activity","intellectual disability","age-associated memory impairment","aging","Alzheimer Disease prevention","2026-02-19",{"date":256,"type":40},"2026-02-23",{"date":258,"type":40},"2025-01-10",{"date":260,"type":21},"2028-06",{"name":262,"class":74},"University of North Carolina, Chapel Hill",2,{"id":265,"slug":266,"hasResults":11,"nctId":267,"briefTitle":268,"officialTitle":268,"acronym":269,"eligibilityCriteria":270,"healthyVolunteers":16,"sex":17,"minAge":271,"maxAge":4,"enrollmentInfo":272,"targetDuration":4,"studyType":203,"phases":274,"briefSummary":275,"conditions":276,"keywords":280,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":281,"lastUpdatePostDateStruct":282,"startDateStruct":284,"completionDateStruct":286,"leadSponsor":288,"locationsCount":46},"100614909","phonological-constraints-on-language-development-in-individuals-with-williams-syndrome-100614909","NCT07285720","Phonological Constraints on Language Development in Individuals With Williams Syndrome","SOUNDS","Inclusion Criteria:\n\n* For SW and SD: genetic diagnosis and aged between 6- and 17 years old.\n* For typical participants: any child, adolescent or young adult of the same developmental or chronological age (between 6 and 17 years of age)\n* adult group (between 20 and 60 years).\n\nExclusion Criteria:\n\n* Autistic Associated Disorders,\n* West syndrome","6 Years",{"count":273,"type":21},130,[236],"Williams syndrome (WS) is a neurodevelopmental disease characterized by mild to moderate intellectual disability and an extremely heterogeneous cognitive profile. Research has outlined two main features of WS: an atypical social behavior associated with surprising language abilities, and a hyperacusis. The purpose of this project is to investigate the relationships between both these abilities, and particularly the role of the hyperacusis on language abilities. The hyperacusis would be crucial in developing language skills: the apparent strength in the verbal domain could rely on Phonological Short Term Memory (PSTM) more in individuals with WS than in typically developing individuals. In addition, the investigators will compare individuals with WS to individuals with Down syndrome (DS): DS is often associated to strong limitations in the PSTM with poor language abilities. To this end, the investigators will use a highly innovative approach including physiological assessments (EEG-NIRS protocol) and questionnaires. The performance of people with WS will be compared to those of participants with DS and TD participants of same DA and cognitive assessments.",[25,277,278,279],"Language","Phonological Short-Term Memory","EEG-NIRS",[89,277,278,279],"2025-12-02",{"date":283,"type":40},"2025-12-16",{"date":285,"type":40},"2024-07-05",{"date":287,"type":21},"2026-07",{"name":289,"class":74},"Centre Hospitalier Universitaire, Amiens",{"id":291,"slug":292,"hasResults":11,"nctId":293,"briefTitle":294,"officialTitle":295,"acronym":296,"eligibilityCriteria":297,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":298,"targetDuration":300,"studyType":22,"phases":4,"briefSummary":301,"conditions":302,"keywords":644,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":687,"lastUpdatePostDateStruct":688,"startDateStruct":690,"completionDateStruct":692,"leadSponsor":694,"locationsCount":263},"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":299,"type":21},20000,"100 Years","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.",[303,304,305,306,307,308,309,310,311,312,313,314,315,316,317,318,319,320,321,322,323,324,325,326,327,328,329,330,331,332,25,333,334,335,336,337,338,339,340,341,342,343,344,345,346,347,348,349,350,351,352,353,354,355,247,356,357,358,359,360,361,362,363,364,365,366,367,368,369,370,371,372,373,374,375,376,377,378,379,380,381,382,383,384,385,386,387,388,389,390,391,392,393,394,395,396,397,398,399,400,401,402,403,404,405,406,407,408,409,410,411,412,413,414,415,416,417,418,419,420,421,422,423,424,425,426,427,428,429,430,431,432,433,434,435,436,437,438,439,440,441,442,443,444,445,446,447,448,449,450,451,452,453,454,455,456,457,458,459,460,461,462,463,464,465,466,467,468,469,470,471,472,473,474,475,476,477,478,479,480,481,482,483,484,485,486,487,488,489,490,491,492,493,494,495,496,497,498,499,500,501,502,503,504,505,506,507,508,509,510,511,512,513,514,515,516,517,518,519,520,521,522,523,524,525,526,527,528,529,530,531,532,533,534,535,536,537,538,539,540,541,542,543,544,545,546,547,548,549,550,551,552,553,554,555,556,557,558,559,560,561,562,563,564,565,566,567,568,569,570,571,572,573,574,575,576,577,578,579,580,581,582,583,584,585,586,587,588,589,590,591,592,593,594,595,596,597,598,599,600,601,602,603,604,605,606,607,608,609,610,611,612,613,614,615,616,617,618,619,620,621,622,623,624,625,626,627,628,629,630,631,632,633,634,635,636,637,638,639,640,641,642,643],"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","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","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 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\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",[645,646,647,648,649,247,650,651,362,652,323,653,654,655,525,534,656,657,314,658,659,322,660,324,661,313,662,663,537,664,665,540,541,666,543,544,667,668,547,669,670,671,597,672,673,674,675,676,677,678,602,679,680,681,607,608,682,683,684,685,686],"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":689,"type":40},"2025-05-29",{"date":691,"type":40},"2010-07",{"date":693,"type":21},"2100-12",{"name":695,"class":74},"Sanford Health"]