🌐EnglishEnglishDeutschEspañolFrançaisTürkçeالعربية日本語EntityQ4646476· pop 11· linked from 11 articlesKleefstra syndromeHuman diseaseResearch172 papersKleefstra Syndrome.1993Kleefstra Syndrome.Journal of the College of Physicians and Surgeons--Pakistan : JCPSP · 2022Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.American journal of human genetics · 2024Kleefstra syndrome: Impact on parents.Disability and health journal · 2021International clinical evidence-based guideline for Kleefstra syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2026via PubMedWikidata factsSubclass ofsyndromeOfficial websiteConnectionscomparative genomic hybridizationEntityepilepsyEntityCategoriesAutosomal monosomies and deletionsRare genetic syndromesSyndromes affecting the jawSyndromes with craniofacial abnormalitiesSyndromes with intellectual disabilitiesSyndromes with microcephaly