{"frequencyBands":{"HP:0040280":[100,100],"HP:0040281":[80,99],"HP:0040282":[30,79],"HP:0040283":[5,29],"HP:0040284":[1,4],"HP:0040285":[0,0]},"page":{"columns":[{"gene":"","key":"MONDO:0012269/OMIM:609425","label":"Chromosome 3q29 deletion syndrome","mondoId":"MONDO:0012269","onsetQualifier":null,"recordKeys":["1baaf99e95b51ff8760e8193c13139f203791edb39ea887d35b6491c103aa249","24b0fc448823f80ff19b39fa41e6ca4b79b2154ed7305e838e0917f782a6c987","331f748e4510fdd07d59ce3c5fc9d70ff283c350c0649ef3054460012c42a379","513eded63e4179e873981c974a78ec62f6303868b425d7da9630572e3bb92389","5259b2ec49f3dfa5915c7e97136c1c033e127fdd02f760500cb2d2c5cf6d7fc3","56a69e1ea7e8c2ea5c38e3f8f830376675a83ec07687b38728c4cef07b51d5f7","56f2a2d3214fd5e2ff4776594aefe2243b2479d6a5029c42a3884a763bdd69a7","57559e610aa28a7d3164d42375575690fff1d7e15138583f5c373650095d3741","576148e01e25de6f4cc7cc8ea2e479756f182c5405dd0ce8c62e5775af18588a","5948506d5de0470c1387cdf91c849dd4c06b8aba0e8fe304aea0da66feaa96dc","5c60609f922bb84af711df70f1b41b39133641b2314a9d19e0e57717c39fe25d","61a1bb0b6bcec32e4f64395d3d5eba84a637e4853caa27dec65154569dfc66d0","6bb6c25ce6b9c526264c3a1ea149b1a9824eb55e6e9eb58aa8c17af46c7fe564","915b874680c479f51035735fa30396d5449da45481b40eb05e06370e7f281c14","952a36ad8281d4c99885f650168fc819cc98fe1564a695c7527fe3e2b2f0be50","9693dbe96f26cb15af822e75341e215b5a4b1c12a93b1765ce7b6121b4fea594","a53abde3fc735c7df3ef7ee19d69a3aad3eb790cb0a3f361acc741e6b8de7ba8","ad17cfc9914ddbb0f643f774f3c811465e3f29dddd7dbb7637b1ca4915cb56c3","ad1b25e2f91e3d5b87c24fd2d7923e301df087eb1b120cbde390e59cf95caf04","b97eb2e4e8b29498c98edec689947a4296e2dd54ead33cbbcfaf0319e352f7be","cef63b959675e2db9425c805e780c7a097f4a82026c46260b84c6819698e3cb0","d006412828819452238c284793f2af4f7fabd1c6e6c0796f86b33a295b08a16c","daaae77d106017662ccf11b6bf8e8a8d8f1c9e931cec6eac4bb8d919e011e5c6","f455d0b504b0e13f1ceb0dfde9deaba4da2b9d590e4874b89a9c6f88c5decb20","f51a9866b4925b333656e9e14616873413b71e4dc1992c9753a4332696428d0b"],"recordQualifiers":{},"scopeLabel":"OMIM:609425","sourceIds":["OMIM:609425"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0012269/ORPHA:65286","label":"3q29 microdeletion syndrome","mondoId":"MONDO:0012269","onsetQualifier":null,"recordKeys":["001252081ea19bfc80c4b97f0d70fda4c81f98f792e07980dfec3b593566edcc","02e2b50107495609486c86d2d84fbdc9f099a2b385f5d9d1b005e750c44b6b69","05f0ce532c8ace7b6995f332daf0a22691c06cbe240835ae20aa1f93a06bf6bf","083916d3ba337f2931b5327e2bdbbb22e0eb2ff6bb3f0d5d137d59e4ffbb0cbf","0c09d5019d4350c636899b49b853b713380c02bbff7468d0a8b550821068d483","1171276c8cf5eaba686908262dae16b303d57a6773c6f53137ef25b4856bc710","13aacdab48974d1f32829f8fb8e47c3df3f3000b3d187369625c053baba57776","18e1f9c59ac31f235649eb6edab242f77b31d07087c6dee9529081e6854504ec","1e0c8276e39a1750cde666f88e53adb71f67a67ecec0b4ec0caec6997b51b7ee","2f7ebf5843b9ae026e2e1c9a8cd30a9133295c8d3a475f0e833b7b9e35026ccc","30aaa50bfca4c5b7c78990b16287cfec545263b0ba88aa9f23a7ac966747e89b","38a42a231724d009e43f0866f006e4f3527dee82bbf5bbabbd1a50575ee46b0c","3ae44ac78583228bb5ce58951103ab2476e21bf14801231d208059102e3f4b7a","497b6cb8d9d0d3d8081cc286518801bed9e25810410792eac2195987e4ad2e4d","4989a454dfedc9d258d87ea2154f49167d285ffa46bce2cccfa288189f159fe8","4c7407706156bb186a09415e15133463880bcdbf9950be9d7f90fe6bd158bd4e","4ecff7fca15bd74370163a52a60670ca4abb8bfc9b44adedf363de9fb1ece780","4f285581d69e90fab99dbd0a433e3d85d2d867510f488104412ccd4a3ae14157","568948570cfd0c7103fffc489131a45222be85c5db708464ceb0e9d11c803aa4","5840d494c9d54d76293530700fe363ff69ce921b35c6e939c38bb92b8a11148b","5b80089d2cf0a751047b7e559011978f977ce6d5cd04b30a7547ed3b70212f8e","5c15ef28d53547c84474a07708802ca482f138a9199401aa547663e12fa7afe7","5d653c9d664caa5c75e7aea208f17caa8e6a480c1a123d8703614e95a46dafcd","61fb8da0367b4d45334ae7a2b88197204efebafd64c72adb07ba8a7812c9269f","63e8c43e9201f7e5cd6130eeb99d2bee93007f051da4f5e67ce237f665ee624e","6d185fb042a7d92bc6dad0ab15c37b1208681f46d9ee730f23bf5939f911f7fd","7075b086a426430f2775b6fc19d061675af049c8f395d13e04f30fb384b2eb8b","73cb2e4eea8ca531c12352c127757b9a9c005f8e46b9466a7864ba752ee69ef9","7c4dec638097427dc308769e8f74742c5fb795a7f51a542736c623160fc0c388","808f1c5587712783a47b1060285687e4641bea1961b0a02a6cd20b5859aab81f","9dae0db94591e82e92c991b8a44d7fc68bc4be7378152b0c4dd7eec05a12ddf1","a98bdcec776b012fc06df63241368afbe8b2c1213e4a475188305f12831bb9a3","a9a862f559ce00197c5747e77895b5c542509e3f4259f287f344170a9f37f6d7","adcfab5f7a8d900bd1960411100dfdad20787e0ae7315830d747c4b3c92756a4","ae28e8174df35704346acd39f258359563e38b77d32b93eda2f84cf033182b32","b2a4d1eb0167700b4074d2aef678b3ecbc52b1f5402510c64f0fd41e6f0b3bb2","b9af0d76dc48f9c7d7d0e290b6e24ca9ed5ddfaea9a90873e7983fbd5ece63f2","bb6417c6d19b3aa48de0bb22b9690039b158cf840c437e23bb2c5fbdd946f971","c93ae715c78313eb465698e771e4911112d8b801911b0336c754ac3564ccfb03","d0329c807344db3101d91751133cfa29b861cea132b31c4b5e44910b3c85572f","d03abe54fc68e4b1c8b1d055defa5e0dcd08530e5dccff688a4b35bfaa47297b","d2e1e0401732a9bf8be8d7490964ea7e536731ddba5ce871065b1d587fcd93ab","d6f01eaebdece5fcc961aa2d60c18d01a45529d56f939d2abc981540f8152ab7","fb33407c30604fe19a4270a53823fa67b9dfc574acfe9c5cd2b27c2a46675294"],"recordQualifiers":{},"scopeLabel":"ORPHA:65286","sourceIds":["ORPHA:65286"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0012269/OMIM:609425","MONDO:0012269/ORPHA:65286"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"

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":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":69,"sourceGroups":{"omim":10,"orphanet":44,"published":15}},"features":[{"hpoId":"HP:0001000","label":"Abnormal skin pigmentation","primary":false},{"hpoId":"HP:0000164","label":"Abnormality of the dentition","primary":false},{"hpoId":"HP:0000718","label":"Aggressive behavior","primary":false},{"hpoId":"HP:0000739","label":"Anxiety","primary":false},{"hpoId":"HP:0007018","label":"Attention deficit hyperactivity disorder","primary":false},{"hpoId":"HP:0000717","label":"Autism","primary":false},{"hpoId":"HP:0007302","label":"Bipolar affective disorder","primary":false},{"hpoId":"HP:0000518","label":"Cataract","primary":false},{"hpoId":"HP:0004209","label":"Clinodactyly of the 5th finger","primary":false},{"hpoId":"HP:0000750","label":"Delayed speech and language","primary":false},{"hpoId":"HP:0000678","label":"Dental crowding","primary":false},{"hpoId":"HP:0000716","label":"Depression","primary":false},{"hpoId":"HP:0000494","label":"Downslanted palpebral fissures","primary":false},{"hpoId":"HP:0000232","label":"Everted lower lip vermilion","primary":false},{"hpoId":"HP:0000324","label":"Facial asymmetry","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0002066","label":"Gait ataxia","primary":false},{"hpoId":"HP:0001288","label":"Gait disturbance","primary":false},{"hpoId":"HP:0002020","label":"Gastroesophageal reflux","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0000218","label":"High palate","primary":false},{"hpoId":"HP:0000085","label":"Horseshoe kidney","primary":false},{"hpoId":"HP:0000752","label":"Hyperactivity","primary":false},{"hpoId":"HP:0001611","label":"Hypernasal speech","primary":false},{"hpoId":"HP:0000047","label":"Hypospadias","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0001382","label":"Joint hypermobility","primary":false},{"hpoId":"HP:0000276","label":"Long face","primary":false},{"hpoId":"HP:0100807","label":"Long fingers","primary":false},{"hpoId":"HP:0000369","label":"Low-set ears","primary":false},{"hpoId":"HP:0000256","label":"Macrocephaly","primary":false},{"hpoId":"HP:0000400","label":"Macrotia","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0000568","label":"Microphthalmia","primary":false},{"hpoId":"HP:0000733","label":"Motor stereotypy","primary":false},{"hpoId":"HP:0000275","label":"Narrow face","primary":false},{"hpoId":"HP:0000202","label":"Orofacial cleft","primary":false},{"hpoId":"HP:0001643","label":"Patent ductus arteriosus","primary":false},{"hpoId":"HP:0000768","label":"Pectus carinatum","primary":false},{"hpoId":"HP:0000767","label":"Pectus excavatum","primary":false},{"hpoId":"HP:0000358","label":"Posteriorly rotated ears","primary":false},{"hpoId":"HP:0000426","label":"Prominent nasal bridge","primary":false},{"hpoId":"HP:0000709","label":"Psychosis","primary":false},{"hpoId":"HP:0002092","label":"Pulmonary arterial hypertension","primary":false},{"hpoId":"HP:0003196","label":"Short nose","primary":false},{"hpoId":"HP:0000322","label":"Short philtrum","primary":false},{"hpoId":"HP:0008416","label":"Six lumbar vertebrae","primary":false},{"hpoId":"HP:0001518","label":"Small for gestational age","primary":false},{"hpoId":"HP:0001682","label":"Subvalvular aortic stenosis","primary":false},{"hpoId":"HP:0001182","label":"Tapered finger","primary":false},{"hpoId":"HP:0000219","label":"Thin upper lip vermilion","primary":false}],"ledeHtml":"3q29 microdeletion syndrome (also known as 3q29 deletion syndrome) is a condition that results from the deletion of a small piece of chromosome 3 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q29.","mondoId":"MONDO:0012269","records":[{"frequencyKind":"range","key":"001252081ea19bfc80c4b97f0d70fda4c81f98f792e07980dfec3b593566edcc","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007018","is_excluded":false,"label":"Attention deficit hyperactivity disorder","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"02e2b50107495609486c86d2d84fbdc9f099a2b385f5d9d1b005e750c44b6b69","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003196","is_excluded":false,"label":"Short nose","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"05f0ce532c8ace7b6995f332daf0a22691c06cbe240835ae20aa1f93a06bf6bf","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002092","is_excluded":false,"label":"Pulmonary arterial hypertension","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"083916d3ba337f2931b5327e2bdbbb22e0eb2ff6bb3f0d5d137d59e4ffbb0cbf","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000518","is_excluded":false,"label":"Cataract","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0c09d5019d4350c636899b49b853b713380c02bbff7468d0a8b550821068d483","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000276","is_excluded":false,"label":"Long face","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1171276c8cf5eaba686908262dae16b303d57a6773c6f53137ef25b4856bc710","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000085","is_excluded":false,"label":"Horseshoe kidney","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"13aacdab48974d1f32829f8fb8e47c3df3f3000b3d187369625c053baba57776","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"18e1f9c59ac31f235649eb6edab242f77b31d07087c6dee9529081e6854504ec","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000739","is_excluded":false,"label":"Anxiety","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"1baaf99e95b51ff8760e8193c13139f203791edb39ea887d35b6491c103aa249","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"PMID:15918153","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1e0c8276e39a1750cde666f88e53adb71f67a67ecec0b4ec0caec6997b51b7ee","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000768","is_excluded":false,"label":"Pectus carinatum","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"24b0fc448823f80ff19b39fa41e6ca4b79b2154ed7305e838e0917f782a6c987","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000717","is_excluded":false,"label":"Autism","onset_id":null,"reference":"PMID:15918153","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2f7ebf5843b9ae026e2e1c9a8cd30a9133295c8d3a475f0e833b7b9e35026ccc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"30aaa50bfca4c5b7c78990b16287cfec545263b0ba88aa9f23a7ac966747e89b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000322","is_excluded":false,"label":"Short philtrum","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"331f748e4510fdd07d59ce3c5fc9d70ff283c350c0649ef3054460012c42a379","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000358","is_excluded":false,"label":"Posteriorly rotated ears","onset_id":null,"reference":"OMIM:609425","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"38a42a231724d009e43f0866f006e4f3527dee82bbf5bbabbd1a50575ee46b0c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3ae44ac78583228bb5ce58951103ab2476e21bf14801231d208059102e3f4b7a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007302","is_excluded":false,"label":"Bipolar affective disorder","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"497b6cb8d9d0d3d8081cc286518801bed9e25810410792eac2195987e4ad2e4d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000678","is_excluded":false,"label":"Dental crowding","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4989a454dfedc9d258d87ea2154f49167d285ffa46bce2cccfa288189f159fe8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000767","is_excluded":false,"label":"Pectus excavatum","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4c7407706156bb186a09415e15133463880bcdbf9950be9d7f90fe6bd158bd4e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004209","is_excluded":false,"label":"Clinodactyly of the 5th finger","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4ecff7fca15bd74370163a52a60670ca4abb8bfc9b44adedf363de9fb1ece780","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001643","is_excluded":false,"label":"Patent ductus arteriosus","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4f285581d69e90fab99dbd0a433e3d85d2d867510f488104412ccd4a3ae14157","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008416","is_excluded":false,"label":"Six lumbar vertebrae","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"513eded63e4179e873981c974a78ec62f6303868b425d7da9630572e3bb92389","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"OMIM:609425","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5259b2ec49f3dfa5915c7e97136c1c033e127fdd02f760500cb2d2c5cf6d7fc3","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001518","is_excluded":false,"label":"Small for gestational age","onset_id":null,"reference":"OMIM:609425","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"568948570cfd0c7103fffc489131a45222be85c5db708464ceb0e9d11c803aa4","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001000","is_excluded":false,"label":"Abnormal skin pigmentation","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"56a69e1ea7e8c2ea5c38e3f8f830376675a83ec07687b38728c4cef07b51d5f7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000733","is_excluded":false,"label":"Motor stereotypy","onset_id":null,"reference":"PMID:15918153","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"56f2a2d3214fd5e2ff4776594aefe2243b2479d6a5029c42a3884a763bdd69a7","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000276","is_excluded":false,"label":"Long face","onset_id":null,"reference":"PMID:15918153","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"57559e610aa28a7d3164d42375575690fff1d7e15138583f5c373650095d3741","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000767","is_excluded":false,"label":"Pectus excavatum","onset_id":null,"reference":"PMID:15918153","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"576148e01e25de6f4cc7cc8ea2e479756f182c5405dd0ce8c62e5775af18588a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002066","is_excluded":false,"label":"Gait ataxia","onset_id":null,"reference":"PMID:15918153","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5840d494c9d54d76293530700fe363ff69ce921b35c6e939c38bb92b8a11148b","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002020","is_excluded":false,"label":"Gastroesophageal reflux","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5948506d5de0470c1387cdf91c849dd4c06b8aba0e8fe304aea0da66feaa96dc","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000718","is_excluded":false,"label":"Aggressive behavior","onset_id":null,"reference":"OMIM:609425","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"5b80089d2cf0a751047b7e559011978f977ce6d5cd04b30a7547ed3b70212f8e","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000047","is_excluded":false,"label":"Hypospadias","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5c15ef28d53547c84474a07708802ca482f138a9199401aa547663e12fa7afe7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001182","is_excluded":false,"label":"Tapered finger","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5c60609f922bb84af711df70f1b41b39133641b2314a9d19e0e57717c39fe25d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000322","is_excluded":false,"label":"Short philtrum","onset_id":null,"reference":"PMID:15918153","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5d653c9d664caa5c75e7aea208f17caa8e6a480c1a123d8703614e95a46dafcd","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000400","is_excluded":false,"label":"Macrotia","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"61a1bb0b6bcec32e4f64395d3d5eba84a637e4853caa27dec65154569dfc66d0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":"HP:0003593","reference":"PMID:15918153","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"61fb8da0367b4d45334ae7a2b88197204efebafd64c72adb07ba8a7812c9269f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000426","is_excluded":false,"label":"Prominent nasal bridge","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"63e8c43e9201f7e5cd6130eeb99d2bee93007f051da4f5e67ce237f665ee624e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000709","is_excluded":false,"label":"Psychosis","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"6bb6c25ce6b9c526264c3a1ea149b1a9824eb55e6e9eb58aa8c17af46c7fe564","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001182","is_excluded":false,"label":"Tapered finger","onset_id":null,"reference":"PMID:15918153","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6d185fb042a7d92bc6dad0ab15c37b1208681f46d9ee730f23bf5939f911f7fd","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000256","is_excluded":false,"label":"Macrocephaly","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7075b086a426430f2775b6fc19d061675af049c8f395d13e04f30fb384b2eb8b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"73cb2e4eea8ca531c12352c127757b9a9c005f8e46b9466a7864ba752ee69ef9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000232","is_excluded":false,"label":"Everted lower lip vermilion","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7c4dec638097427dc308769e8f74742c5fb795a7f51a542736c623160fc0c388","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000275","is_excluded":false,"label":"Narrow face","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"808f1c5587712783a47b1060285687e4641bea1961b0a02a6cd20b5859aab81f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000324","is_excluded":false,"label":"Facial asymmetry","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"915b874680c479f51035735fa30396d5449da45481b40eb05e06370e7f281c14","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000752","is_excluded":false,"label":"Hyperactivity","onset_id":null,"reference":"OMIM:609425","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"952a36ad8281d4c99885f650168fc819cc98fe1564a695c7527fe3e2b2f0be50","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0004209","is_excluded":false,"label":"Clinodactyly of the 5th finger","onset_id":null,"reference":"PMID:15918153","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"9693dbe96f26cb15af822e75341e215b5a4b1c12a93b1765ce7b6121b4fea594","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"PMID:15918153","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"9dae0db94591e82e92c991b8a44d7fc68bc4be7378152b0c4dd7eec05a12ddf1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a53abde3fc735c7df3ef7ee19d69a3aad3eb790cb0a3f361acc741e6b8de7ba8","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000219","is_excluded":false,"label":"Thin upper lip vermilion","onset_id":null,"reference":"OMIM:609425","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a98bdcec776b012fc06df63241368afbe8b2c1213e4a475188305f12831bb9a3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000716","is_excluded":false,"label":"Depression","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a9a862f559ce00197c5747e77895b5c542509e3f4259f287f344170a9f37f6d7","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000164","is_excluded":false,"label":"Abnormality of the dentition","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ad17cfc9914ddbb0f643f774f3c811465e3f29dddd7dbb7637b1ca4915cb56c3","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"OMIM:609425","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ad1b25e2f91e3d5b87c24fd2d7923e301df087eb1b120cbde390e59cf95caf04","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000275","is_excluded":false,"label":"Narrow face","onset_id":null,"reference":"PMID:15918153","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"adcfab5f7a8d900bd1960411100dfdad20787e0ae7315830d747c4b3c92756a4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001288","is_excluded":false,"label":"Gait disturbance","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ae28e8174df35704346acd39f258359563e38b77d32b93eda2f84cf033182b32","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000568","is_excluded":false,"label":"Microphthalmia","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b2a4d1eb0167700b4074d2aef678b3ecbc52b1f5402510c64f0fd41e6f0b3bb2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b97eb2e4e8b29498c98edec689947a4296e2dd54ead33cbbcfaf0319e352f7be","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000739","is_excluded":false,"label":"Anxiety","onset_id":null,"reference":"OMIM:609425","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b9af0d76dc48f9c7d7d0e290b6e24ca9ed5ddfaea9a90873e7983fbd5ece63f2","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000202","is_excluded":false,"label":"Orofacial cleft","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bb6417c6d19b3aa48de0bb22b9690039b158cf840c437e23bb2c5fbdd946f971","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001682","is_excluded":false,"label":"Subvalvular aortic stenosis","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c93ae715c78313eb465698e771e4911112d8b801911b0336c754ac3564ccfb03","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"cef63b959675e2db9425c805e780c7a097f4a82026c46260b84c6819698e3cb0","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000400","is_excluded":false,"label":"Macrotia","onset_id":null,"reference":"OMIM:609425","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d006412828819452238c284793f2af4f7fabd1c6e6c0796f86b33a295b08a16c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000709","is_excluded":false,"label":"Psychosis","onset_id":null,"reference":"OMIM:609425","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d0329c807344db3101d91751133cfa29b861cea132b31c4b5e44910b3c85572f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000718","is_excluded":false,"label":"Aggressive behavior","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d03abe54fc68e4b1c8b1d055defa5e0dcd08530e5dccff688a4b35bfaa47297b","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d2e1e0401732a9bf8be8d7490964ea7e536731ddba5ce871065b1d587fcd93ab","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001611","is_excluded":false,"label":"Hypernasal speech","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d6f01eaebdece5fcc961aa2d60c18d01a45529d56f939d2abc981540f8152ab7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000717","is_excluded":false,"label":"Autism","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"daaae77d106017662ccf11b6bf8e8a8d8f1c9e931cec6eac4bb8d919e011e5c6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0100807","is_excluded":false,"label":"Long fingers","onset_id":null,"reference":"PMID:15918153","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f455d0b504b0e13f1ceb0dfde9deaba4da2b9d590e4874b89a9c6f88c5decb20","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000426","is_excluded":false,"label":"Prominent nasal bridge","onset_id":null,"reference":"PMID:15918153","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f51a9866b4925b333656e9e14616873413b71e4dc1992c9753a4332696428d0b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:609425","disease_name":"Chromosome 3q29 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000768","is_excluded":false,"label":"Pectus carinatum","onset_id":null,"reference":"PMID:15918153","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"fb33407c30604fe19a4270a53823fa67b9dfc574acfe9c5cd2b27c2a46675294","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:65286","disease_name":"3q29 microdeletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"ORPHA:65286","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Most people with 3q29 microdeletion syndrome are missing about 1.6 million DNA building blocks (base pairs), also written as 1.6 megabases (Mb), at position q29 on chromosome 3. This deletion affects one of the two copies of chromosome 3 in each cell.

The segment that gets deleted is surrounded by short, repeated sequences of DNA that make it prone to rearrangement during cell division. The rearrangement can lead to missing or extra copies of DNA at 3q29. (An extra copy of this segment causes another condition called 3q29 microduplication syndrome.)

The chromosome segment most commonly deleted in people with 3q29 microdeletion syndrome contains about 20 genes. Some of these genes are thought to be involved in brain development. However, it is unknown which specific genes, when deleted, are related to the signs and symptoms of 3q29 microdeletion syndrome. It is also unclear why some people with a deletion at 3q29 have no associated health problems. It is possible that genetic changes outside the 3q29 region can influence the features of this condition.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes 3q29 microdeletion syndrome?"},{"bodyHtml":"

The features associated with 3q29 microdeletion syndrome vary widely. Some individuals with this chromosomal change have very mild or no related signs and symptoms, and the deletion is discovered through genetic testing only after a family member is diagnosed. However, most people with a 3q29 microdeletion have delayed development (particularly speech delay) and mild or moderate intellectual disability. They also have an increased risk of neurodevelopmental or psychiatric disorders, including autism spectrum disorder (which affects social interaction and communication), anxiety, bipolar disorder, and schizophrenia.

Infants with 3q29 microdeletion syndrome often have feeding difficulties and do not grow and gain weight at the expected rate (which is described as failure to thrive). Weak muscle tone (hypotonia), recurrent ear infections, an unusually small head (microcephaly), and yellowing of the skin and whites of the eyes (jaundice) can also occur. Some affected babies are born with a heart defect, most commonly an abnormal connection between two major arteries called patent ductus arteriosus (PDA).

Other possible features of 3q29 microdeletion syndrome include gastrointestinal disorders, such as a backflow of acidic stomach contents into the esophagus (gastroesophageal reflux), and abnormalities of the teeth. There may also be a subtle pattern of characteristic facial features, including a long, narrow face; a narrow space between the nose and upper lip (short philtrum); a high bridge of the nose; and large ears.

Source: MedlinePlus Genetics

","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"3q29-microdeletion-syndrome","sourceDocuments":[{"name":"3q29 microdeletion syndrome","reviewed":"2017-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:18:56.601289+00:00","label":"Causes","pageSha256":"02aa6a8ef1ad2bf37e10e2b9a3cdb6b81adf7ab686ea4f159415ed949073c4b3","sourceUrl":"https://medlineplus.gov/genetics/condition/3q29-microdeletion-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/3q29-microdeletion-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":"3q29 microdeletion syndrome"},"schemaVersion":1}