Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
"},"coverage":{"countRecords":8,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":9,"sourceGroups":{"omim":1,"orphanet":0,"published":8}},"features":[{"hpoId":"HP:0001999","label":"Abnormal facial shape","primary":false},{"hpoId":"HP:0000708","label":"Atypical behavior","primary":false},{"hpoId":"HP:0000750","label":"Delayed speech and language","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0001510","label":"Growth delay","primary":false},{"hpoId":"HP:0004383","label":"Hypoplastic left ventricle","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false}],"ledeHtml":"16p12.2 microdeletion is a chromosomal change in which a small amount of genetic material on chromosome 16 is deleted. The deletion occurs on the short (p) arm of the chromosome at a location designated p12.2. Common characteristics that have been described in people with a 16p12.2 microdeletion include developmental delay, delayed speech, intellectual disability that ranges from mild to profound, weak muscle tone (hypotonia), slow growth resulting in short stature, an usually small head (microcephaly), malformations of the heart, recurrent seizures (epilepsy), and psychiatric and behavioral problems.","mondoId":"MONDO:0007631","records":[{"frequencyKind":"count","key":"37c53185a892ccd4ced2cd7bcf04a7c48f19b6da69d512b94f42bd1e9918ad94","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:136570","disease_name":"Chromosome 16p12.1 deletion syndrome, 520kb","evidence":"PCS","frequency_raw":"15/15","hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"PMID:22970919","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"4037d8e6c6ae197c27a16607b74ba14c6a7bccd71ff78618378bab11bc924b2b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:136570","disease_name":"Chromosome 16p12.1 deletion syndrome, 520kb","evidence":"PCS","frequency_raw":"10/21","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"PMID:22970919","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"510321a05b98face340e30debabd4390b14b49abbdd264279d7d5046c1bd6b8a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:136570","disease_name":"Chromosome 16p12.1 deletion syndrome, 520kb","evidence":"PCS","frequency_raw":"8/22","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"PMID:22970919","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"5cef5d8219af649731cf79f079ba8d3ea4a318f160b22984a8c27958ca89bbe4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:136570","disease_name":"Chromosome 16p12.1 deletion syndrome, 520kb","evidence":"PCS","frequency_raw":"7/20","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"PMID:22970919","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"62282e099caaf6b9a90cb95be2854d95deb0e8221f9cb58780b5bf1c3cfc49a4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:136570","disease_name":"Chromosome 16p12.1 deletion syndrome, 520kb","evidence":"PCS","frequency_raw":"42/42","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:22970919","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"70f24db5459f312a15127cd76a059580181533209570556dffbf5646fd5a3e85","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:136570","disease_name":"Chromosome 16p12.1 deletion syndrome, 520kb","evidence":"PCS","frequency_raw":"9/16","hpo_id":"HP:0000708","is_excluded":false,"label":"Atypical behavior","onset_id":null,"reference":"PMID:22970919","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8a6ac6748eb885f2b7246f5b81d0b5c14fde45aac0953c7b896764fe1a42c554","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:136570","disease_name":"Chromosome 16p12.1 deletion syndrome, 520kb","evidence":"PCS","frequency_raw":"4/21","hpo_id":"HP:0004383","is_excluded":false,"label":"Hypoplastic left ventricle","onset_id":null,"reference":"PMID:22970919","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c24e891a47edaacda5a301e50d79c69163675bd0b980ef81432df6c2ada68435","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:136570","disease_name":"Chromosome 16p12.1 deletion syndrome, 520kb","evidence":"PCS","frequency_raw":"9/22","hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":null,"reference":"PMID:22970919","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c63e52d9ea3d636d69be505690aa414955171115a01221560d221f316b66176e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:136570","disease_name":"Chromosome 16p12.1 deletion syndrome, 520kb","evidence":"IEA","frequency_raw":"HP:0040281","hpo_id":"HP:0001999","is_excluded":false,"label":"Abnormal facial shape","onset_id":null,"reference":"OMIM:136570","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"People with a 16p12.2 microdeletion are missing a sequence of about 520,000 DNA building blocks (base pairs), also written as 520 kb, at position p12.2 on chromosome 16. The deleted region contains seven genes and affects one of the two copies of chromosome 16 in each cell.
The signs and symptoms that can result from a 16p12.2 microdeletion are generally related to the loss of one or more genes in this region. However, it is unclear which missing genes contribute to specific features that can occur in the disorder. Because some people with a 16p12.2 microdeletion have no obvious signs or symptoms, researchers believe that other genetic or environmental factors may also be involved. In particular, studies indicate that individuals with a 16p12.2 microdeletion who have neurological or behavioral problems often have an additional, larger chromosomal deletion or duplication on another chromosome. Small duplications of genetic material that occur near the 16p12.2 microdeletion may also contribute to the features associated with this condition.
","key":"forms","title":"What causes 16p12.2 microdeletion?"},{"bodyHtml":"Less common features that can occur in people with a 16p12.2 microdeletion can include hearing loss, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), dental abnormalities, malformed kidneys, and genital abnormalities in males. However, there is no particular pattern of physical abnormalities that characterizes individuals with a 16p12.2 microdeletion. Signs and symptoms related to the chromosomal change vary even among affected members of the same family, and some people with the deletion have no identified physical or behavioral abnormalities.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"16p122-microdeletion","sourceDocuments":[{"name":"16p12.2 microdeletion","reviewed":"2017-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:18:48.843743+00:00","label":"Causes","pageSha256":"7a5fec0a174817e2affebc4c49cd13c30b826a5caf1942b0a3c5fb36410ffcd3","sourceUrl":"https://medlineplus.gov/genetics/condition/16p122-microdeletion/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/16p122-microdeletion"}],"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":"16p12.2 microdeletion"},"schemaVersion":1}