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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>People with 16p11.2 deletion syndrome are missing a sequence of about 600,000 DNA building blocks (base pairs), also written as 600 kilobases (kb), at position p11.2 on chromosome 16. This deletion affects one of the two copies of chromosome 16 in each cell. The 600 kb region contains more than 25 genes, and in many cases little is known about their function. Researchers are working to determine how the missing genes contribute to the features of 16p11.2 deletion syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes 16p11.2 deletion syndrome?"},{"bodyHtml":"<p>People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of autism spectrum disorders. These disorders are characterized by impaired communication and socialization skills, as well as delayed development of speech and language. In 16p11.2 deletion syndrome, expressive language skills (vocabulary and the production of speech) are generally more severely affected than receptive language skills (the ability to understand speech). Some people with this disorder have recurrent seizures (epilepsy).</p><p>Some affected individuals have minor physical abnormalities such as low-set ears or partially webbed toes (partial syndactyly). People with this disorder are also at increased risk of obesity compared with the general population. However, there is no particular pattern of physical abnormalities that characterizes 16p11.2 deletion syndrome. Signs and symptoms of the disorder vary even among affected members of the same family. Some people with the deletion have no identified physical, intellectual, or behavioral abnormalities.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"16p112-deletion-syndrome","sourceDocuments":[{"name":"16p11.2 deletion syndrome","reviewed":"2009-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:18:48.210562+00:00","label":"Causes","pageSha256":"28034069bb2e44d8d00daea87c874acb532ee499a1dda07458a82cc59ff4f615","sourceUrl":"https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"16p11.2 deletion syndrome"},"schemaVersion":1}