{"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:0014482/OMIM:616078","label":"Intellectual developmental disorder, autosomal dominant 29","mondoId":"MONDO:0014482","onsetQualifier":null,"recordKeys":["0159af5348881b416731732314a7b3e3b5c6152c7fa4210c00c29b3630b001f9","03a8c6f55a562f5fab40822930ef75791f501ca8d5d6e4015a81e094905cf0f8","0657e31a3918bfef4f9e2c531359926c0c3b629fcf803ab4b0e59d6411d176e0","07d616ed5cd240dccae4a2b0e43beff1304cd3b7205da4ee1e242f567dde3466","088c0463b250626586b1bfa6ed1f5141f860e2955cae023567ec68d9baf6981e","0a5c23ddc42a66472f76db623b8a0d5c6f7fe7798178c4c61a17b2fb5be9bad2","15592261dbacba9c670cf8ed92815ddcdc6f9a9dba2124b9ad6ef0d518639c31","17849534bbc6a213d0ee4491e5bc24db0fa8e7258e043d71aa6f884487ad2cae","1a25befc42163a3692f124f3053bb7716917d57988d4e1e0e5bd0be33b88032d","2183082f74ab195e89009c7c55dec31c78e3fdf77ef0afb2d169728ed196e8bb","240376139cf8b0dbe4e80df6b23bc4cc19a5ddb591b0b538f849190de2f71f89","2421fae799888491d6b8396d4b22ef224373d956c048a9eaa97e8a1140a82cc6","24a8ba5680e26e663531af84708251fd9349d81f57593a9345d50cb24f63571b","255a514fd601c9026f2bf35ea1970d44ebfc03e8f1b5b6cb6574d6d90f4423bd","26f6ad5e0985bcc121e38579c7676a16d8610b95a1b6c98b511e995ab73dce34","2be819baedbf2536a01f65b6b75de6a6b0dd61d0bb7932f7daf205710cd3d5b7","2d8b2a6d47acee26b890cebd1f9e3fb66a8cdafc67eae34bbfea8c3f9514869d","32e5539526d5950c823c4d47102438dcf0599773aa72bc420bc65138a94e8e01","37900c4d3058eef938136ad4dc5bff45a1f97cab2e3382ad5a4552e954e6fd60","37c5da2b6a8e18d6f47afa24defcb750d2be956df4ded23000599ca4645375d2","4a8ced6c8e62e39a5298dd21edd643b6df9881494c608cabd5cdac9704e873da","51b34a6eab6d23ea7771de75fd412885e65992f67deaf89766e3a1cef2bf413d","56d6f33f6806775d3ae64df950c8082084b0acd225f0d67509e767d3bb626f74","5833c08550d7ac022aba2ab474d92690808fad70692145468382673d8b206299","5c62b5863aaaeec33fd88e3df3f409f166d0e6030d628bb588c13895a51daf7e","693505d8e0aa5d41c1746af03ec89bdd6b96e2e7c0b75ed10bfd78f20c297910","69baf7adbe46fb789d65fb0716bbcf1ed3b24604b48df99f642b6dcb12a93790","6ab765fd4754c79601d4e27cf6afe7dc5f6c6fe063c420e194ccd6db9f1c9e14","6c6deb52d6f94a447c48838588aa5ee625bfd1b4f7f0f0ae1fd608431a3423c0","6ceab7d059ec98d8702ec661caf3e466d9eda14df90977e225a0ec6147196513","7428a92e011e81dd6e961abde72e38a42560019e72ac7b9c5f35e4c69fd93d67","7d715bede526f215cb63a6c18691b030c71dac51cf0cc563305448a2b839fbcf","80642b197564e8d865670faabd5cf2134772ee597b0ae36c8d2630153bc383fa","83150e632c200f458c48e3ae79a9a1de22f8f0b3f784d2ee11aa27da3f5e6693","8643d02e788d40c51b12e259b16e5bdbec514ad176b5e6e8b60386a00e369fb6","89e825aeba19d9fc4c73c6604ce86bb83789bccc60fda4691029c2ccffb3d2b9","8e0e971af79ece276f8164dcd9fc9f89fe13786129fdf7bdb2dd93e3c0395734","8f127e27fb7b1b584b5fc51b8bea0ce7fbb73d6e05c9751887e7e58947ee1e26","9e495185257ea3b3692d84c5857215cbaac46081c1560607e542cbff0f92fbad","a663f9e091bea88e68492bd5109bae8ffb1606b1e6f0b288702719c69cd0968e","af454a33018d939d1918898422bf00c257602f3de415a0f28d6a07d881e9b340","b511633e8c52d33dbcaf9b00ebe4df9a91f400fc945850096a362234072fe50f","b82cfc2d19bb0baa244204cb4d3fb248e69e38053016b3ce262f1bd0d929233b","b9a61f1d79c79855f0259c98a06d61e10714a3a93c8ca13a0d45d48b5c5fc56b","c6926eeedab69e073a388d4be3b2d1bd8d4db40d0cb6a9b54fbd0d805fc741de","cabf7a8cd8d73e6cef9b6552895dd5aba57dc9a230e6b1067be073d9994f2619","d3b3c8b872330079a1f647c7fa727cf5b67c3b0f856a75ca91825bff566b9923","d8f7ac01ff9fb54ae3cce9a8bc0bf715a2217beaddedc4dfc0bdcc7085cb4f12","dba9a10fa1b009ba1692c7e4ae606eedd920da4cf64d25c409706aca5613a3d9","e1581b05ac082b1338405ff0721f49785e6c85795e4c8376fce34daeafc7988f","e28f2511c0c2cd43897d2776ff36d3112999c6c8116c80cd65a172a707b70bef","e595f9ed5cb7bb2baafde0e58bedc579b61a29f519ff2f4d5b59d5ef0b88a139","e718d205fb99982efdaf7b2be5ef83fb860bca0dc95787989fe9ffeca83e4ba1","ea5343c983a69a470119d0356d77aef18cdf8868527e2d389e9abfbf2e7b4959","f562f1e3985789d01a0265f79baaf7e3996cfee0dc53f0344d80e47ade961ecc","ff5a7e26ad240f859c0d0c0c70ef5da6b69077c7b7ead4ee3f53470fa89b4ee2","ffdb41cf1174c326e5516aa69cd33a24db8f2e5ad51a4f84e1bdc22e0ce1d7eb"],"recordQualifiers":{},"scopeLabel":"OMIM:616078","sourceIds":["OMIM:616078"],"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:0014482/OMIM:616078"],"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":56,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":57,"sourceGroups":{"omim":1,"orphanet":0,"published":56}},"features":[{"hpoId":"HP:0001344","label":"Absent speech","primary":false},{"hpoId":"HP:0000718","label":"Aggressive behavior","primary":false},{"hpoId":"HP:0010296","label":"Ankyloglossia","primary":false},{"hpoId":"HP:0000739","label":"Anxiety","primary":false},{"hpoId":"HP:0002381","label":"Aphasia","primary":false},{"hpoId":"HP:0000483","label":"Astigmatism","primary":false},{"hpoId":"HP:0007018","label":"Attention deficit hyperactivity disorder","primary":false},{"hpoId":"HP:0000729","label":"Autistic behavior","primary":false},{"hpoId":"HP:0000248","label":"Brachycephaly","primary":false},{"hpoId":"HP:0010055","label":"Broad hallux","primary":false},{"hpoId":"HP:0000028","label":"Cryptorchidism","primary":false},{"hpoId":"HP:0010554","label":"Cutaneous finger syndactyly","primary":false},{"hpoId":"HP:0000490","label":"Deeply set eye","primary":false},{"hpoId":"HP:0000750","label":"Delayed speech and language","primary":false},{"hpoId":"HP:0000678","label":"Dental crowding","primary":false},{"hpoId":"HP:0000494","label":"Downslanted palpebral fissures","primary":false},{"hpoId":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","primary":false},{"hpoId":"HP:0025161","label":"Frequent temper tantrums","primary":false},{"hpoId":"HP:0002007","label":"Frontal bossing","primary":false},{"hpoId":"HP:0002197","label":"Generalized-onset seizure","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0000218","label":"High palate","primary":false},{"hpoId":"HP:0001385","label":"Hip dysplasia","primary":false},{"hpoId":"HP:0001007","label":"Hirsutism","primary":false},{"hpoId":"HP:0000752","label":"Hyperactivity","primary":false},{"hpoId":"HP:0003307","label":"Hyperlordosis","primary":false},{"hpoId":"HP:0000540","label":"Hypermetropia","primary":false},{"hpoId":"HP:0000316","label":"Hypertelorism","primary":false},{"hpoId":"HP:0001276","label":"Hypertonia","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0000276","label":"Long face","primary":false},{"hpoId":"HP:0000343","label":"Long philtrum","primary":false},{"hpoId":"HP:0000369","label":"Low-set ears","primary":false},{"hpoId":"HP:0002938","label":"Lumbar hyperlordosis","primary":false},{"hpoId":"HP:0001270","label":"Motor delay","primary":false},{"hpoId":"HP:0000545","label":"Nearsightedness","primary":false},{"hpoId":"HP:0000160","label":"Narrow mouth","primary":false},{"hpoId":"HP:0000189","label":"Narrow palate","primary":false},{"hpoId":"HP:0001052","label":"Nevus flammeus","primary":false},{"hpoId":"HP:0001513","label":"Obesity","primary":false},{"hpoId":"HP:0000194","label":"Open mouth","primary":false},{"hpoId":"HP:0001761","label":"Pes cavus","primary":false},{"hpoId":"HP:0000307","label":"Pointed chin","primary":false},{"hpoId":"HP:0000508","label":"Ptosis","primary":false},{"hpoId":"HP:0001852","label":"Sandal gap","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0100716","label":"Self-injurious behavior","primary":false},{"hpoId":"HP:0012745","label":"Short palpebral fissure","primary":false},{"hpoId":"HP:0002360","label":"Sleep disturbance","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false},{"hpoId":"HP:0000664","label":"Synophrys","primary":false},{"hpoId":"HP:0012471","label":"Thick vermilion border","primary":false},{"hpoId":"HP:0000219","label":"Thin upper lip vermilion","primary":false},{"hpoId":"HP:0000505","label":"Visual impairment","primary":false},{"hpoId":"HP:0000445","label":"Wide nose","primary":false}],"ledeHtml":"SETBP1 haploinsufficiency disorder is a condition that involves speech and language problems, intellectual disability, and distinctive facial features.","mondoId":"MONDO:0014482","records":[{"frequencyKind":"count","key":"0159af5348881b416731732314a7b3e3b5c6152c7fa4210c00c29b3630b001f9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"2/6","hpo_id":"HP:0010055","is_excluded":false,"label":"Broad hallux","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"03a8c6f55a562f5fab40822930ef75791f501ca8d5d6e4015a81e094905cf0f8","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"3/29","hpo_id":"HP:0000483","is_excluded":false,"label":"Astigmatism","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0657e31a3918bfef4f9e2c531359926c0c3b629fcf803ab4b0e59d6411d176e0","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"07d616ed5cd240dccae4a2b0e43beff1304cd3b7205da4ee1e242f567dde3466","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"3/6","hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"088c0463b250626586b1bfa6ed1f5141f860e2955cae023567ec68d9baf6981e","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"3/13","hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0a5c23ddc42a66472f76db623b8a0d5c6f7fe7798178c4c61a17b2fb5be9bad2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000752","is_excluded":false,"label":"Hyperactivity","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"15592261dbacba9c670cf8ed92815ddcdc6f9a9dba2124b9ad6ef0d518639c31","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000678","is_excluded":false,"label":"Dental crowding","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"17849534bbc6a213d0ee4491e5bc24db0fa8e7258e043d71aa6f884487ad2cae","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0001761","is_excluded":false,"label":"Pes cavus","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1a25befc42163a3692f124f3053bb7716917d57988d4e1e0e5bd0be33b88032d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/27","hpo_id":"HP:0001276","is_excluded":false,"label":"Hypertonia","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2183082f74ab195e89009c7c55dec31c78e3fdf77ef0afb2d169728ed196e8bb","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"3/6","hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"240376139cf8b0dbe4e80df6b23bc4cc19a5ddb591b0b538f849190de2f71f89","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"2/6","hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2421fae799888491d6b8396d4b22ef224373d956c048a9eaa97e8a1140a82cc6","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000160","is_excluded":false,"label":"Narrow mouth","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"24a8ba5680e26e663531af84708251fd9349d81f57593a9345d50cb24f63571b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"255a514fd601c9026f2bf35ea1970d44ebfc03e8f1b5b6cb6574d6d90f4423bd","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"6/34","hpo_id":"HP:0007018","is_excluded":false,"label":"Attention deficit hyperactivity disorder","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"26f6ad5e0985bcc121e38579c7676a16d8610b95a1b6c98b511e995ab73dce34","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"3/34","hpo_id":"HP:0100716","is_excluded":false,"label":"Self-injurious behavior","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2be819baedbf2536a01f65b6b75de6a6b0dd61d0bb7932f7daf205710cd3d5b7","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"4/29","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2d8b2a6d47acee26b890cebd1f9e3fb66a8cdafc67eae34bbfea8c3f9514869d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0012471","is_excluded":false,"label":"Thick vermilion border","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"32e5539526d5950c823c4d47102438dcf0599773aa72bc420bc65138a94e8e01","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0002938","is_excluded":false,"label":"Lumbar hyperlordosis","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"37900c4d3058eef938136ad4dc5bff45a1f97cab2e3382ad5a4552e954e6fd60","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0012745","is_excluded":false,"label":"Short palpebral fissure","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"37c5da2b6a8e18d6f47afa24defcb750d2be956df4ded23000599ca4645375d2","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000276","is_excluded":false,"label":"Long face","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"4a8ced6c8e62e39a5298dd21edd643b6df9881494c608cabd5cdac9704e873da","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"2/6","hpo_id":"HP:0001344","is_excluded":false,"label":"Absent speech","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"51b34a6eab6d23ea7771de75fd412885e65992f67deaf89766e3a1cef2bf413d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"5/22","hpo_id":"HP:0010296","is_excluded":false,"label":"Ankyloglossia","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"56d6f33f6806775d3ae64df950c8082084b0acd225f0d67509e767d3bb626f74","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0001052","is_excluded":false,"label":"Nevus flammeus","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"5833c08550d7ac022aba2ab474d92690808fad70692145468382673d8b206299","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000219","is_excluded":false,"label":"Thin upper lip vermilion","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"5c62b5863aaaeec33fd88e3df3f409f166d0e6030d628bb588c13895a51daf7e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0001852","is_excluded":false,"label":"Sandal gap","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"693505d8e0aa5d41c1746af03ec89bdd6b96e2e7c0b75ed10bfd78f20c297910","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000248","is_excluded":false,"label":"Brachycephaly","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"69baf7adbe46fb789d65fb0716bbcf1ed3b24604b48df99f642b6dcb12a93790","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000307","is_excluded":false,"label":"Pointed chin","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6ab765fd4754c79601d4e27cf6afe7dc5f6c6fe063c420e194ccd6db9f1c9e14","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000194","is_excluded":false,"label":"Open mouth","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6c6deb52d6f94a447c48838588aa5ee625bfd1b4f7f0f0ae1fd608431a3423c0","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"9/29","hpo_id":"HP:0000540","is_excluded":false,"label":"Hypermetropia","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6ceab7d059ec98d8702ec661caf3e466d9eda14df90977e225a0ec6147196513","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"14/27","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7428a92e011e81dd6e961abde72e38a42560019e72ac7b9c5f35e4c69fd93d67","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"8/34","hpo_id":"HP:0000739","is_excluded":false,"label":"Anxiety","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7d715bede526f215cb63a6c18691b030c71dac51cf0cc563305448a2b839fbcf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0002373","is_excluded":false,"label":"Febrile seizure (within the age range of 3 months to 6 years)","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"80642b197564e8d865670faabd5cf2134772ee597b0ae36c8d2630153bc383fa","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0002197","is_excluded":false,"label":"Generalized-onset seizure","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"83150e632c200f458c48e3ae79a9a1de22f8f0b3f784d2ee11aa27da3f5e6693","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0002381","is_excluded":false,"label":"Aphasia","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8643d02e788d40c51b12e259b16e5bdbec514ad176b5e6e8b60386a00e369fb6","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0000508","is_excluded":false,"label":"Ptosis","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"89e825aeba19d9fc4c73c6604ce86bb83789bccc60fda4691029c2ccffb3d2b9","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000490","is_excluded":false,"label":"Deeply set eye","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8e0e971af79ece276f8164dcd9fc9f89fe13786129fdf7bdb2dd93e3c0395734","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"4/34","hpo_id":"HP:0000729","is_excluded":false,"label":"Autistic behavior","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8f127e27fb7b1b584b5fc51b8bea0ce7fbb73d6e05c9751887e7e58947ee1e26","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0001385","is_excluded":false,"label":"Hip dysplasia","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9e495185257ea3b3692d84c5857215cbaac46081c1560607e542cbff0f92fbad","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"3/32","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a663f9e091bea88e68492bd5109bae8ffb1606b1e6f0b288702719c69cd0968e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0003307","is_excluded":false,"label":"Hyperlordosis","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"af454a33018d939d1918898422bf00c257602f3de415a0f28d6a07d881e9b340","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0010554","is_excluded":false,"label":"Cutaneous finger syndactyly","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b511633e8c52d33dbcaf9b00ebe4df9a91f400fc945850096a362234072fe50f","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"14/29","hpo_id":"HP:0000505","is_excluded":false,"label":"Visual impairment","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b82cfc2d19bb0baa244204cb4d3fb248e69e38053016b3ce262f1bd0d929233b","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0001007","is_excluded":false,"label":"Hirsutism","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b9a61f1d79c79855f0259c98a06d61e10714a3a93c8ca13a0d45d48b5c5fc56b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"33/34","hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c6926eeedab69e073a388d4be3b2d1bd8d4db40d0cb6a9b54fbd0d805fc741de","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"4/34","hpo_id":"HP:0002360","is_excluded":false,"label":"Sleep disturbance","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"cabf7a8cd8d73e6cef9b6552895dd5aba57dc9a230e6b1067be073d9994f2619","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"3/29","hpo_id":"HP:0000545","is_excluded":false,"label":"Myopia","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d3b3c8b872330079a1f647c7fa727cf5b67c3b0f856a75ca91825bff566b9923","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"33/34","hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d8f7ac01ff9fb54ae3cce9a8bc0bf715a2217beaddedc4dfc0bdcc7085cb4f12","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000445","is_excluded":false,"label":"Wide nose","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"dba9a10fa1b009ba1692c7e4ae606eedd920da4cf64d25c409706aca5613a3d9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000189","is_excluded":false,"label":"Narrow palate","onset_id":null,"reference":"OMIM:616078","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"e1581b05ac082b1338405ff0721f49785e6c85795e4c8376fce34daeafc7988f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"7/33","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e28f2511c0c2cd43897d2776ff36d3112999c6c8116c80cd65a172a707b70bef","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"23/30","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e595f9ed5cb7bb2baafde0e58bedc579b61a29f519ff2f4d5b59d5ef0b88a139","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"8/34","hpo_id":"HP:0025161","is_excluded":false,"label":"Frequent temper tantrums","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e718d205fb99982efdaf7b2be5ef83fb860bca0dc95787989fe9ffeca83e4ba1","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0001513","is_excluded":false,"label":"Obesity","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ea5343c983a69a470119d0356d77aef18cdf8868527e2d389e9abfbf2e7b4959","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f562f1e3985789d01a0265f79baaf7e3996cfee0dc53f0344d80e47ade961ecc","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"7/34","hpo_id":"HP:0000718","is_excluded":false,"label":"Aggressive behavior","onset_id":null,"reference":"PMID:33867525","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ff5a7e26ad240f859c0d0c0c70ef5da6b69077c7b7ead4ee3f53470fa89b4ee2","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"2/6","hpo_id":"HP:0000343","is_excluded":false,"label":"Long philtrum","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ffdb41cf1174c326e5516aa69cd33a24db8f2e5ad51a4f84e1bdc22e0ce1d7eb","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:616078","disease_name":"Intellectual developmental disorder, autosomal dominant 29","evidence":"PCS","frequency_raw":"2/6","hpo_id":"HP:0000664","is_excluded":false,"label":"Synophrys","onset_id":null,"reference":"PMID:25217958","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/setbp1-haploinsufficiency-disorder\">SETBP1 haploinsufficiency disorder</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>SETBP1 haploinsufficiency disorder is caused by variants (also called mutations) in the SETBP1 gene. This gene provides instructions for making a protein that attaches (binds) to certain regions of DNA to increase gene activity (expression). The SETBP1 protein is found throughout the body, but protein levels are highest during brain development before birth. During this time, nerve cells grow and divide (proliferate) and move (migrate) to their proper location in the brain. The SETBP1 protein is thought to control the activity of genes involved in these developmental processes.</p><p>SETBP1 gene variants that cause SETBP1 haploinsufficiency disorder prevent the production of any functional SETBP1 protein from one copy of the gene. It is unclear how the loss of SETBP1 protein leads to the specific features of SETBP1 haploinsufficiency disorder. A shortage of this protein probably impairs the expression of certain genes in the brain, disrupting development. Abnormalities in certain brain regions likely underlie the speech, intellectual, and behavioral problems that can occur in SETBP1 haploinsufficiency disorder.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/setbp1-haploinsufficiency-disorder/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes SETBP1 haploinsufficiency disorder?"},{"bodyHtml":"<p>In people with SETBP1 haploinsufficiency disorder, problems with vocabulary and the production of speech (expressive language skills) are generally more severely affected than the ability to understand speech (receptive language skills). About 80 percent of affected children have a condition called childhood apraxia of speech, in which they have difficulty with the mouth movements needed to speak. Speech development may be limited to a few words or no speech. Affected individuals often communicate using gestures or by mimicking the expressions of others.</p><p>Individuals with SETBP1 haploinsufficiency disorder have intellectual disability that can range from mild to moderate. They may also have neurodevelopment problems, such as attention-deficit/hyperactivity disorder (ADHD) or autistic behaviors that affect communication and social interaction. Affected individuals may have weak muscle tone (hypotonia); delayed development of motor skills, such as sitting, standing, and walking; or recurrent seizures (epilepsy).</p><p>Distinctive facial features in people with SETBP1 haploinsufficiency disorder can include a long face, a high forehead, eyebrows that grow together in the middle (synophrys), short eye openings (short palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), droopy eyelids (ptosis), puffiness of the skin around the eyes (periorbital fullness), small nostrils, a high nasal bridge, a broad tip of the nose, a thin upper lip, a high arch in the roof of the mouth (high-arched palate), and a small chin.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/setbp1-haploinsufficiency-disorder\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"setbp1-haploinsufficiency-disorder","sourceDocuments":[{"name":"SETBP1 haploinsufficiency disorder","reviewed":"2019-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:55.903440+00:00","label":"Causes","pageSha256":"ea2c6d751f26c4f3d4f5e6958899eceaff06bef39be75ea98d406a5538bcd803","sourceUrl":"https://medlineplus.gov/genetics/condition/setbp1-haploinsufficiency-disorder/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/setbp1-haploinsufficiency-disorder"}],"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":"SETBP1 haploinsufficiency disorder"},"schemaVersion":1}