{"schema":"https://ver.cy/schemas/card/1.0.0","id":"vr.tr.x-linked-intellectual-disability","code":"thing-q8041560","url":"https://ver.cy/models/thing/q8041560/","name":"X-linked intellectual disability","alternateNames":["X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome","corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome","ARX-related encephalopathy-brain malformation spectrum","X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome","Allan-Herndon-Dudley syndrome","X-linked intellectual disability-short stature-overweight syndrome","X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability","early-onset parkinsonism-intellectual disability syndrome","L1 syndrome","MEHMO syndrome","deafness dystonia syndrome","Arts syndrome"],"kind":"thing","status":"published","version":"0.2.0-wave.2","language":"en","classifiers":{"family":"Thing Registry","category":"Cross-cutting context","entryKind":"thing","plane":"XCT","domain":["XCT.STA"],"industry":[],"navPath":"","tags":[],"facets":{}},"whatItIs":"A group of syndromic genetic conditions in which variants in genes on the X chromosome cause intellectual disability together with additional clinical features, including fragile X syndrome and many rarer syndromes with features such as brain malformations, heart or skeletal involvement, affecting mainly males and sometimes females; these conditions are diagnosed by genetic testing and supported through developmental, educational and family services.","purpose":"Let an agent explain syndromic X-linked intellectual disability in general terms, describe inheritance and testing with attribution, route families to genetic and developmental services, and support respectful language and inclusion.","scope":{"in":[],"out":[],"boundaries":[]},"distinguishingFeatures":["These conditions have an X-linked inheritance pattern.","These conditions are genetically heterogeneous.","These conditions mainly affect males.","Intellectual disability occurs with additional clinical features as part of a syndrome."],"structure":{"bundles":[{"id":"respect","name":"Respect","description":"Language and inclusion.","layers":[{"id":"language","name":"Language","description":"Respectful language.","findings":[{"id":"language-finding","name":"Language","description":"Language.","questions":[{"text":"Which language do people with intellectual disability and their organisations prefer, and which terms are outdated?","kind":"provenance"},{"text":"Is the request respectful?","kind":"boundary"}]}]},{"id":"inclusion","name":"Inclusion","description":"Rights and inclusion.","findings":[{"id":"inclusion-finding","name":"Inclusion","description":"Inclusion.","questions":[{"text":"Which rights to education, support and inclusion apply, and how are they accessed?","kind":"provenance"},{"text":"Which organisations support families?","kind":"provenance"}]}]}]},{"id":"genetics","name":"Genetics","description":"Inheritance and testing.","layers":[{"id":"inheritance","name":"Inheritance","description":"How it is inherited.","findings":[{"id":"inheritance-finding","name":"Inheritance","description":"Inheritance.","questions":[{"text":"How does X-linked inheritance work, and why are males mainly affected while females may be carriers or affected?","kind":"definition"},{"text":"Which genes and syndromes are involved, according to genetic databases?","kind":"provenance"}]}]},{"id":"testing","name":"Testing","description":"Testing and counselling.","findings":[{"id":"testing-finding","name":"Testing","description":"Testing.","questions":[{"text":"How are these conditions diagnosed by genetic testing, and what does genetic counselling offer?","kind":"provenance"},{"text":"Is the user asking to interpret their own results, which needs a genetics professional?","kind":"boundary"}]}]}]},{"id":"support","name":"Support","description":"Care and development.","layers":[{"id":"services","name":"Services","description":"Developmental services.","findings":[{"id":"services-finding","name":"Services","description":"Services.","questions":[{"text":"Which developmental, therapeutic and educational services support children and adults with these conditions?","kind":"provenance"},{"text":"How is care coordinated for syndromic features such as cardiac or neurological issues?","kind":"provenance"}]}]},{"id":"specific","name":"Specific","description":"A specific syndrome.","findings":[{"id":"specific-finding","name":"Specific","description":"Specific syndrome.","questions":[{"text":"What is known about this specific syndrome, according to medical and rare disease sources?","kind":"provenance"},{"text":"Which entry fits it?","kind":"action"}]}]}]},{"id":"learn","name":"Learn","description":"Research and teaching.","layers":[{"id":"research","name":"Research","description":"Research.","findings":[{"id":"research-finding","name":"Research","description":"Research.","questions":[{"text":"What are current research directions, including gene discovery and therapies?","kind":"provenance"},{"text":"How can families participate in research and registries?","kind":"provenance"}]}]},{"id":"teach","name":"Teach","description":"Teaching.","findings":[{"id":"teach-finding","name":"Teach","description":"Teaching.","questions":[{"text":"How can X-linked inheritance be taught with these conditions as examples, respectfully?","kind":"action"},{"text":"Which misconceptions arise?","kind":"provenance"}]}]}]}]},"agentConduct":{"may":["Explain these conditions and point families to genetic counselling and support groups.","Use respectful, person-first or identity-first language as the person or family prefers."],"mustNot":["Diagnose a condition from appearance or behaviour.","Share genetic test results with relatives, insurers or employers without consent.","Describe people with intellectual disability in demeaning terms.","Advise on reproductive decisions as if they were the agent's choice."],"requiresHuman":["Any decision about genetic testing or reproduction."]},"ethics":{"considerations":["Genetic information reveals facts about whole families, not just one person.","People with intellectual disability face stigma and loss of autonomy."],"affectedParties":["People with these conditions","Carrier mothers and relatives","Carers"]},"owners":{"steward":"The person and their family; clinical genetics services hold the records.","roles":[],"masterSystems":["Rare disease and genetic registries"]},"relations":[{"target":"Q18553438","type":"parent","note":"registry parent class"},{"target":"Q55785866","type":"parent","note":"registry parent class"},{"target":"X-linked disease","type":"related","note":"category"},{"target":"genetic syndromic intellectual disability","type":"related","note":"category"},{"target":"dominance","type":"related","note":"inheritance patterns"},{"target":"deoxyribonucleic acid","type":"related","note":"genetic testing"}],"interaction":{"identity":{"applicability":"required","items":["Vercy registry: vr.tr.x-linked-intellectual-disability","Wikidata: Q8041560 (https://www.wikidata.org/wiki/Q8041560)"]},"properties":{"applicability":"not-applicable","items":[]},"recognition":{"applicability":"optional","items":["Intellectual disability with an X-linked genetic cause occurs alongside additional clinical features.","Many distinct syndromes fall within this group.","Non-syndromic X-linked intellectual disability is outside this sense, and autosomal genetic syndromes have different inheritance.","Not physical as a category; varied features by syndrome."]},"capabilities":{"applicability":"required","items":["explain the group and its inheritance","describe testing and diagnosis pathways","route families to services","support respectful language"]},"hazards":{"applicability":"required","items":["Stigmatising language","Agents interpreting genetic results","Delayed access to support"]},"interfaces":{"applicability":"required","items":["Genetic testing and counselling guidelines","Disability rights and education law","Rare disease frameworks"]},"context":{"applicability":"required","items":["Genetic intellectual disability linked to the X chromosome.","fragile X syndrome","syndromic forms with brain malformations","syndromic forms with cardiac or skeletal features","non-syndromic X-linked intellectual disability","rare named syndromes"]}},"sources":[{"title":"Wikidata item Q8041560: X-linked intellectual disability","url":"https://www.wikidata.org/wiki/Q8041560","note":"identity and sense of the item"},{"title":"Wikipedia: X-linked intellectual disability","url":"https://en.wikipedia.org/wiki/X-linked_intellectual_disability","note":"general description of the item"}],"openQuestions":["Should each syndrome be a separate entry?","How should genetic resources be linked?","How should family organisations be localised?"],"resources":{"spec":"/models/things/publications/thing-q8041560/spec.json"},"provenance":{"origin":"thing registry research (pass 2)","builtFrom":["models/things/publications/thing-q8041560/spec.json"],"providers":["Claude"],"researchStatus":"unreviewed","generatedAt":"2026-09-11T22:19:13Z","builder":"tools/build_cards.py@1.0.0"},"completeness":{"sections":{"classifiers":"filled","whatItIs":"filled","purpose":"filled","distinguishingFeatures":"filled","structure":"filled","agentConduct":"filled","ethics":"filled","owners":"filled","relations":"filled","interaction.identity":"filled","interaction.properties":"not-applicable","interaction.recognition":"filled","interaction.capabilities":"filled","interaction.hazards":"filled","interaction.interfaces":"filled","interaction.context":"filled","sources":"filled"},"notes":{"_gate":"Published through the thing publication gate 1.0 on 2026-10-07T10:10:32+00:00: completeness 1.00; sense: Wikidata description; 2 live sources; review by codex: pass","interaction.properties":"Plane XCT: no invented physical properties."},"score":1.0}}