{"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:0014708/OMIM:616606","label":"Ring chromosome 14 syndrome","mondoId":"MONDO:0014708","onsetQualifier":null,"recordKeys":["02535b1340e3c80a822ec7a850251511a165227000f5356e0bcb7ed5d709dd53","0880ac68517bc7904b6640165302ed7df1b7eaab42a77527d620efe332aaf584","09b87158dc545ae3ebb3389c3d747e6975adf4973caccf0d9c4d2050ed2ead4c","0ef5c8b8cb9b040e120ba030a5dd9059d730f2791a257f387a7df590db35634c","19261e914bf08ca7bded2c5db101e37b63198dc939f982313f4acd5d09893bd8","1b054521bded55e11eaaa23659fc055f628b0c7d22ff3b4692f7bcba8c4b175c","24fecccbb2230205ef80e99795bad6a19097e5b95bf25b78958c05dd0cec4f42","27c781fc733b1bf3227902091a7739f92cc03a4d088947e690c4b4897b9d80ec","2906767e3eeaf4db5a03c8dad907a649e8af1af35eb53df429bb41348706ca29","327100587bf4ab8c9a9ed8d37b7653c497f4e9789ebddd1ee3dfb8f479622b08","3799f3f459bff4ee98b098efaf244877303b4f5a8b181785663c2bbf1379a485","39957501294bfa0d8edbca1aeeda1e958c2976adc1a9ec07b6de74f7f0de2c7a","401ccbc5a21abf897fe0fab2db9412a0ade13cc2c2eee288903f6374318bfd9c","4feb8b00c392a8c0523f71a157d2f452248539601359c41d1cdafb007e6158ba","5ef03be022619ea432f00b530ec4493b0aa013d9de65feabc684b385c665ae4b","5f56af9cd9a1b287f54c4251738be92b6fb1fa39727431bab594415d53f64c72","89b38cedd7b0091eff8f662fdd39184a3a13b5ce5aab3bc6edfe392bbcb804ab","93cfc541c45c499d0996626b91d274470ca2b1bce6ad6b59484472ec8e300d37","a461052ba29d18e64a8e52ce21565e29bbaf06c54d3dd9caab8f5bb663f081fb","a9bc979859fbe9b8e28b50ef8ba1dade6ce8c9ee11d3e5207d8692c7bd647eb1","b088eef428db7446d4dcb81d998fee273ab39d59b806f11008f013bb04d00159","bdb8f1410a4069ed3302aa6367929f687276a84c1367d99a4cbf2627167539c0","c5ca7cdbb5d43c9b9eee013643d4b413c842d05854c3c2139df7b752d8a4530f","ca6594a5e0bca0e2a42816d5c2e7c6455d4e99278a1e26a1fb4e8062555e80aa","d048660a8e434433a58cd354f5fed5e71f0d91a21ee76ede46989b4112c0c218","e2e4a6b3bac7d85574c6d60119a48fd4f70a4933552eb375e1ebc5d1199fec01"],"recordQualifiers":{},"scopeLabel":"OMIM:616606","sourceIds":["OMIM:616606"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0014708/ORPHA:1440","label":"Ring chromosome 14 syndrome","mondoId":"MONDO:0014708","onsetQualifier":null,"recordKeys":["0b443620887630516afa40e3d0dfe1b1f52629c357b54335c6141d896304fa19","11f688b56338af226aa741ab09cb5ca5688e3e0cad938c4926b59164fa4407e0","183d33893b0808320805be9c7b1c6aff7d46a3c1095a9afcc1e07bda4f7b5e3a","3f54caf2abe055ddb0e5314d5942a4ff2059469fbd276f052a658f9c5ff6f044","42cea287ba986a979242d60d5d3a4be0463ec2c7133692398b1fdfd39824b475","46ddb916cf32bc393f97cb62592e8fa3335a0b766f93e156d8e3a0998cc3d9f8","6218c31cda6f2069622c8dc9c907b7533f7429aed06228ae76a252d707fa2c62","7f29033c709d999767f7093ce47cecee8909f0514224ed4362a4bb4f57bbf1e4","8507be040c9cab2aad62e7bf09c8345833921b71b0129c874aee750129e27b95","86b1cfe7d09406cb4d88266810a4b97a4a3889f0592e109da37c56a3b09ae30e","8828f842ec33d8939a4c87fa9a02dd1389fe2f64c57535290fb9176bb2b2dd5b","8e83d6086cba66ef0c18eecc8c8cf3cbd0d87d473468adfd63dda6c21838b815","98a150c05dba7e63f7fc73abce9707f97b554dfd3e40a35149a8b3abadc45a6c","a5f64599fe5a27ad13805f6839e4557caf7177d23a6091704e1280d75af9e5d5","ac1087f624d25424b0bf5dde4fa0f93e31f29d16ba14a5a93124dea74c1f9c14","b5b58a9b18ebff915444477ce769e6c024fc995d5c18e8ab977363b3ce05e684","bbeb65438878f1700f20729fbc0f2daec7795fa312ce77be419f2cc76a0341bd","c1201d49a198f620398355a1b6ac7a5ba468b62758b66fe638a03165ee14ec9a","c15045350e002bda8d05b2cd673be1a3f8cac4f28238ff9920d6a049e5447104","f03aea90bac34be1e1bf9c0b57b5ae10601b0a7848d02737cad17cb8b24df536","f45e9bd23ce79c465ef6af698bac7ebf80c94c5a44c5c996056880d9d005d400"],"recordQualifiers":{},"scopeLabel":"ORPHA:1440","sourceIds":["ORPHA:1440"],"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:0014708/OMIM:616606","MONDO:0014708/ORPHA:1440"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>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.</p>"},"coverage":{"countRecords":8,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":47,"sourceGroups":{"omim":18,"orphanet":21,"published":8}},"features":[{"hpoId":"HP:0001273","label":"Abnormal corpus callosum morphology","primary":false},{"hpoId":"HP:0007703","label":"Abnormal retinal pigmentation","primary":false},{"hpoId":"HP:0007874","label":"Almond-shaped palpebral fissure","primary":false},{"hpoId":"HP:0000463","label":"Anteverted nares","primary":false},{"hpoId":"HP:0000708","label":"Atypical behavior","primary":false},{"hpoId":"HP:0000581","label":"Blepharophimosis","primary":false},{"hpoId":"HP:0000957","label":"Cafe-au-lait spot","primary":false},{"hpoId":"HP:0000518","label":"Cataract","primary":false},{"hpoId":"HP:0000750","label":"Delayed speech and language","primary":false},{"hpoId":"HP:0005280","label":"Depressed nasal bridge","primary":false},{"hpoId":"HP:0000457","label":"Depressed nasal ridge","primary":false},{"hpoId":"HP:0000268","label":"Dolichocephaly","primary":false},{"hpoId":"HP:0000494","label":"Downslanted palpebral fissures","primary":false},{"hpoId":"HP:0000286","label":"Epicanthus","primary":false},{"hpoId":"HP:0005469","label":"Flat occiput","primary":false},{"hpoId":"HP:0002384","label":"Focal impaired awareness seizure","primary":false},{"hpoId":"HP:0007359","label":"Focal-onset seizure","primary":false},{"hpoId":"HP:0001290","label":"Generalized hypotonia","primary":false},{"hpoId":"HP:0002197","label":"Generalized-onset seizure","primary":false},{"hpoId":"HP:0000501","label":"Glaucoma","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0001510","label":"Growth delay","primary":false},{"hpoId":"HP:0000218","label":"High palate","primary":false},{"hpoId":"HP:0000752","label":"Hyperactivity","primary":false},{"hpoId":"HP:0000316","label":"Hypertelorism","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0025373","label":"Interictal EEG abnormality","primary":false},{"hpoId":"HP:0001511","label":"Intrauterine growth retardation","primary":false},{"hpoId":"HP:0000612","label":"Iris coloboma","primary":false},{"hpoId":"HP:0000369","label":"Low-set ears","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0001270","label":"Motor delay","primary":false},{"hpoId":"HP:0000545","label":"Nearsightedness","primary":false},{"hpoId":"HP:0000580","label":"Pigmentary retinopathy","primary":false},{"hpoId":"HP:0002465","label":"Poor speech","primary":false},{"hpoId":"HP:0008897","label":"Postnatal growth retardation","primary":false},{"hpoId":"HP:0002719","label":"Recurrent infections","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0005484","label":"Secondary microcephaly","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0000470","label":"Short neck","primary":false},{"hpoId":"HP:0002133","label":"Status epilepticus","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false}],"ledeHtml":"Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability. Recurrent seizures (epilepsy) develop in infancy or early childhood. In many cases, the seizures are resistant to treatment with anti-epileptic drugs. Most people with ring chromosome 14 syndrome also have some degree of intellectual disability or learning problems. Development may be delayed, particularly the development of speech and of motor skills such as sitting, standing, and walking.","mondoId":"MONDO:0014708","records":[{"frequencyKind":"reported","key":"02535b1340e3c80a822ec7a850251511a165227000f5356e0bcb7ed5d709dd53","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002465","is_excluded":false,"label":"Poor speech","onset_id":null,"reference":"OMIM:616606","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"0880ac68517bc7904b6640165302ed7df1b7eaab42a77527d620efe332aaf584","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000457","is_excluded":false,"label":"Depressed nasal ridge","onset_id":null,"reference":"PMID:23610869","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"09b87158dc545ae3ebb3389c3d747e6975adf4973caccf0d9c4d2050ed2ead4c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000463","is_excluded":false,"label":"Anteverted nares","onset_id":null,"reference":"OMIM:616606","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"0b443620887630516afa40e3d0dfe1b1f52629c357b54335c6141d896304fa19","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"0ef5c8b8cb9b040e120ba030a5dd9059d730f2791a257f387a7df590db35634c","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":null,"reference":"OMIM:616606","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"11f688b56338af226aa741ab09cb5ca5688e3e0cad938c4926b59164fa4407e0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"183d33893b0808320805be9c7b1c6aff7d46a3c1095a9afcc1e07bda4f7b5e3a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"19261e914bf08ca7bded2c5db101e37b63198dc939f982313f4acd5d09893bd8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:616606","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"1b054521bded55e11eaaa23659fc055f628b0c7d22ff3b4692f7bcba8c4b175c","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"OMIM:616606","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"24fecccbb2230205ef80e99795bad6a19097e5b95bf25b78958c05dd0cec4f42","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000580","is_excluded":false,"label":"Pigmentary retinopathy","onset_id":null,"reference":"OMIM:616606","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"27c781fc733b1bf3227902091a7739f92cc03a4d088947e690c4b4897b9d80ec","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0007359","is_excluded":false,"label":"Focal-onset seizure","onset_id":null,"reference":"PMID:23610869","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2906767e3eeaf4db5a03c8dad907a649e8af1af35eb53df429bb41348706ca29","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002197","is_excluded":false,"label":"Generalized-onset seizure","onset_id":null,"reference":"PMID:23610869","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"327100587bf4ab8c9a9ed8d37b7653c497f4e9789ebddd1ee3dfb8f479622b08","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"OMIM:616606","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"3799f3f459bff4ee98b098efaf244877303b4f5a8b181785663c2bbf1379a485","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:23610869","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"39957501294bfa0d8edbca1aeeda1e958c2976adc1a9ec07b6de74f7f0de2c7a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"PMID:23610869","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"3f54caf2abe055ddb0e5314d5942a4ff2059469fbd276f052a658f9c5ff6f044","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005484","is_excluded":false,"label":"Secondary microcephaly","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"401ccbc5a21abf897fe0fab2db9412a0ade13cc2c2eee288903f6374318bfd9c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002384","is_excluded":false,"label":"Focal impaired awareness seizure","onset_id":null,"reference":"PMID:23610869","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"42cea287ba986a979242d60d5d3a4be0463ec2c7133692398b1fdfd39824b475","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000501","is_excluded":false,"label":"Glaucoma","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"46ddb916cf32bc393f97cb62592e8fa3335a0b766f93e156d8e3a0998cc3d9f8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4feb8b00c392a8c0523f71a157d2f452248539601359c41d1cdafb007e6158ba","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"OMIM:616606","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5ef03be022619ea432f00b530ec4493b0aa013d9de65feabc684b385c665ae4b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"OMIM:616606","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5f56af9cd9a1b287f54c4251738be92b6fb1fa39727431bab594415d53f64c72","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0005469","is_excluded":false,"label":"Flat occiput","onset_id":null,"reference":"OMIM:616606","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"6218c31cda6f2069622c8dc9c907b7533f7429aed06228ae76a252d707fa2c62","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7f29033c709d999767f7093ce47cecee8909f0514224ed4362a4bb4f57bbf1e4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001273","is_excluded":false,"label":"Abnormal corpus callosum morphology","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8507be040c9cab2aad62e7bf09c8345833921b71b0129c874aee750129e27b95","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008897","is_excluded":false,"label":"Postnatal growth retardation","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"86b1cfe7d09406cb4d88266810a4b97a4a3889f0592e109da37c56a3b09ae30e","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8828f842ec33d8939a4c87fa9a02dd1389fe2f64c57535290fb9176bb2b2dd5b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000708","is_excluded":false,"label":"Atypical behavior","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"89b38cedd7b0091eff8f662fdd39184a3a13b5ce5aab3bc6edfe392bbcb804ab","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000581","is_excluded":false,"label":"Blepharophimosis","onset_id":null,"reference":"PMID:23610869","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8e83d6086cba66ef0c18eecc8c8cf3cbd0d87d473468adfd63dda6c21838b815","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000957","is_excluded":false,"label":"Cafe-au-lait spot","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"93cfc541c45c499d0996626b91d274470ca2b1bce6ad6b59484472ec8e300d37","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001290","is_excluded":false,"label":"Generalized hypotonia","onset_id":null,"reference":"OMIM:616606","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"98a150c05dba7e63f7fc73abce9707f97b554dfd3e40a35149a8b3abadc45a6c","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000545","is_excluded":false,"label":"Myopia","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a461052ba29d18e64a8e52ce21565e29bbaf06c54d3dd9caab8f5bb663f081fb","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"OMIM:616606","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a5f64599fe5a27ad13805f6839e4557caf7177d23a6091704e1280d75af9e5d5","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000518","is_excluded":false,"label":"Cataract","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a9bc979859fbe9b8e28b50ef8ba1dade6ce8c9ee11d3e5207d8692c7bd647eb1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002133","is_excluded":false,"label":"Status epilepticus","onset_id":null,"reference":"OMIM:616606","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ac1087f624d25424b0bf5dde4fa0f93e31f29d16ba14a5a93124dea74c1f9c14","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b088eef428db7446d4dcb81d998fee273ab39d59b806f11008f013bb04d00159","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000470","is_excluded":false,"label":"Short neck","onset_id":null,"reference":"OMIM:616606","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b5b58a9b18ebff915444477ce769e6c024fc995d5c18e8ab977363b3ce05e684","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 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:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bbeb65438878f1700f20729fbc0f2daec7795fa312ce77be419f2cc76a0341bd","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0025373","is_excluded":false,"label":"Interictal EEG abnormality","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"bdb8f1410a4069ed3302aa6367929f687276a84c1367d99a4cbf2627167539c0","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"OMIM:616606","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c1201d49a198f620398355a1b6ac7a5ba468b62758b66fe638a03165ee14ec9a","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002719","is_excluded":false,"label":"Recurrent infections","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c15045350e002bda8d05b2cd673be1a3f8cac4f28238ff9920d6a049e5447104","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007703","is_excluded":false,"label":"Abnormal retinal pigmentation","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c5ca7cdbb5d43c9b9eee013643d4b413c842d05854c3c2139df7b752d8a4530f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000286","is_excluded":false,"label":"Epicanthus","onset_id":null,"reference":"OMIM:616606","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ca6594a5e0bca0e2a42816d5c2e7c6455d4e99278a1e26a1fb4e8062555e80aa","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"OMIM:616606","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"d048660a8e434433a58cd354f5fed5e71f0d91a21ee76ede46989b4112c0c218","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0007874","is_excluded":false,"label":"Almond-shaped palpebral fissure","onset_id":null,"reference":"PMID:23610869","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"e2e4a6b3bac7d85574c6d60119a48fd4f70a4933552eb375e1ebc5d1199fec01","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616606","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000268","is_excluded":false,"label":"Dolichocephaly","onset_id":null,"reference":"OMIM:616606","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f03aea90bac34be1e1bf9c0b57b5ae10601b0a7848d02737cad17cb8b24df536","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000612","is_excluded":false,"label":"Iris coloboma","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f45e9bd23ce79c465ef6af698bac7ebf80c94c5a44c5c996056880d9d005d400","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1440","disease_name":"Ring chromosome 14 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000752","is_excluded":false,"label":"Hyperactivity","onset_id":null,"reference":"ORPHA:1440","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/ring-chromosome-14-syndrome\">Ring chromosome 14 syndrome</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Ring chromosome 14 syndrome is caused by a rearrangement of chromosome 14 called ring chromosome 14, sometimes written as r(14). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together.</p><p>Several critical genes near the end of the long (q) arm of chromosome 14 may be lost when the ring chromosome forms. The loss of these genes on one of the two copies of chromosome 14 likely contributes to several of the major features of ring chromosome 14 syndrome, including the intellectual disabilities and developmental delays. In addition, chromosomal rearrangements can disrupt several mechanisms that are involved in the regulation of gene activity (expression), which may also contribute to the features seen in people with ring chromosome 14 syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/ring-chromosome-14-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Ring chromosome 14 syndrome?"},{"bodyHtml":"<p>Additional features of ring chromosome 14 syndrome can include slow growth and short stature, a small head (microcephaly), puffy hands and/or feet caused by a buildup of fluid (lymphedema), and subtle differences in facial features. Some affected individuals have problems with their immune system that lead to recurrent infections, especially involving the respiratory system. Abnormalities of the retina, the specialized tissue at the back of the eye that detects light and color, have also been reported in some people with this condition. These changes typically do not affect vision. Major birth defects are rarely seen with ring chromosome 14 syndrome.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/ring-chromosome-14-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"ring-chromosome-14-syndrome","sourceDocuments":[{"name":"Ring chromosome 14 syndrome","reviewed":"2009-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:46.152633+00:00","label":"Causes","pageSha256":"24e43e2cc22a9c3b28aa60ebb9532b46af97e58ff6f076711ed9fbedbba1925d","sourceUrl":"https://medlineplus.gov/genetics/condition/ring-chromosome-14-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/ring-chromosome-14-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":"Ring chromosome 14 syndrome"},"schemaVersion":1}