{"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:0012669/OMIM:611431","label":"Legius syndrome","mondoId":"MONDO:0012669","onsetQualifier":null,"recordKeys":["0ec63fdae3e218decb3986a9c3e96713b742db44d7d795d8d95b0c15caa496d7","1b43b776c88d8bd1eb30f7940b3c959dd48851fa7a22fc230872dd9fbd7039b4","1c7022aee625f2c102f38270705afef560bf7e95fafc21c33497f677e42b67eb","2370584a264315c23939cdb2a961e1c4237d121600292d42bbb087813b581099","29aec345697d410d025c3420643cc286b0ee8ab0217de69cbdd8be85bebd7d69","4b9fe8ff0259e0960645d58af32b56af82f25165e934933c88b19b317ea08f32","4ba7e891acb1364739938fc82f61b62288b0f3e986f93b4bbdf4cd7ae477e79f","50ba725e1f859d66eef5df8d7f6083490cd9172fcddafbdc0efc5691a47fe121","619be2c44ccf220c87edbd11f46862f5f03c7d462c6d83fad84091796a117c09","65f31f6491ad612c8b82c4559d9fb5a3f1611b3e9f7fa9972147b59c5ec8f17b","734305cdc2751bec74fadc104330464404d49e345927a0dc3f6bb50c5dfe8108","78586257c92e31d3f251157426c29777cd12e5c103a9834d4ee2155fdf696157","7db9e43ecefb529f1f831eeb89cefbc1ca3b65180dd97a6ab3d8297b30bcde44","7f2e80c2e8ac392d6df6e8961c3b4f3236c68b08eb86cf530e24c8255cadd062","8b98ea77426ef50dd459ef95232b90e6da4ece1e3e22e4a336643ae6fea25665","8c44286aa41b950cd71ac69e93508bc53a0013388f236319eb57c5a6a783eedb","98482169c2dc3486204505da80c66109c72646816ecbe977b8f6e5c8bdcf3885","9c66df24ce51b3455f69931e79f954039ab78f75a1e67d03f0b0c4ac63eed364","a4c2a26187e32d08aa1a93a18712061fcb701179977445eb0bd78179498f65ab","b8b65b27a61f67a5900a3c597915039fed10f3fc90707be6480dece525567a7d","ed4189f4b4ae7e904b94fcf3017a489d79f9b0ac81e0636648985dfcf36fd0af","f01a30ee3c0109eec14b3fd54784c15942fde910c626ec95906f1f5e3727272a","f2e33d9d2cc821cd2068867af5e23b32598dca70d447b2b7e25e784a365b2928","f960f495e8f0ddf52b22c7e49bff41fc470c1b4e3ffc238fcb5329584e4eb347"],"recordQualifiers":{},"scopeLabel":"OMIM:611431","sourceIds":["OMIM:611431"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0012669/ORPHA:137605","label":"Legius syndrome","mondoId":"MONDO:0012669","onsetQualifier":null,"recordKeys":["0206aa29fe8793a8f9dcb9d91667f3d4c12444e25c03ac9df5bd6f44224e206c","179312ec453188b073ef48a16b74e99c98feb9691ca80ed023a36189301b62a2","19d0e8c8cba164e367cacded0de441259f431fc1e1f85205a83a71429e318ab5","264c18098364d1edfb278a42674f08f9c0bdc406eeccc6ddc0ac2a55346a8586","29a32a8becb2995b2bc2de3ef800000c27cac943a81033e28aeac5d20e63f4fe","2d08bf7384ef9b45a292cf9b149e0623276b3cce8e686967894ccb0b09a03068","39c02cf4980e1efc540150deae156a9ca7337207e180f2acd8312da7c505c01d","3e5c445d5f63e96c48fa49a7f58b850829ce4ceb924f3646a11fac870f4a8de5","48e8ea02432c60fecb7bac9766abe5a193b04abe20aa95b2349b2e87739c76f5","58a9a4d5b6c7efaaa1c985dccd23c0aa224c9bfdee162404d9ba9d161bc93983","59a93de3cbc87d9a0b151061104918525d90ba306ce9d679d2e87cabf5aeb1cf","5dabd793392974f4798041df11b7f469c506b0bf60f2dd857e8c243b80583b92","66f1282396bb176580a3580d08078de39c935f665707e0cea8ac5ce16cac5031","6acc58756b7ded62c5710afc416384ed413f84c1db64f987145571f31e95de6b","7053ef3f2a74a1e1dd580ed20d56be801e3ab41658fd8c61e3abcdbbd6f1f54c","71a7f96b2c1c76c3d690a9d9053b1b685beddb8f272f20fd703cf7dd22103af9","73251681c9a43bb3e8cb58ac508fac462b9eb1aa28196a4b4f840e36501a3238","7d0a7a21c294cab9943b79defad22e9556e2c90459b20d8d9957e0192e88a103","8899bd18da7422f9c21c8566fb0e1ea9858e524a6aa80dfc54d5f76ec4018e6d","8973b31c09d611739d638db7c3a738988d381618e7e8b121f10768ecf5b786ea","8fb7287831a9380743858779e58fff0a3deacdd1fab243d951d9f5525029c17e","97691f2c64389c818ae7149f312c80a77bcf64b7ae4d1c4a07c789db4ec864a5","9a6b32a19a7511ca6d83e73a003bd4826bdb00fa4d8933a6d7c08ad15897642e","9d5c40b08f9d0c5aef87272980f88ff9735b81dd877ace5444452b1259c88980","9e88084e154bd4c4dcf6f1ddf8e1355838fdc3e283033d60e84c13d79ff1f424","9fb4a575b64046035dde3a5f99214a298c540fc607018c7b0476fd8a34df929f","a7932dedb670c3215dbe818520564635088b98fba90b86936045653e0fc0e5c0","a7d556a548594568d32c82ab9f9f19a5995925b01e6e488983a96a49467c510b","b6bddfb3dda3ffa7d045e2f6088ee82383d0d9aae62380ee9369d7debf9267d5","b83006614915de067ceae4a11fd77eccd751b60ef6c52a1828da6cae56f30efb","bce992a482d1c02b8436f00536f86c9b6ebbf907c127cd20d060619e577c5177","c0461c945a130f1c74daa617339548f5b5e39548a2d7c555616d5fbf54da2e7d","c127acfc4ad3fdd4830c82f07916a32500f84df77f1c1c2fc12777a48a7fc04b","c4d1a2459a7fc7154ef859845259a57fcfb060e10eccc5ee6e54e75b36344570","ca88dc3ac39c6d054c9b9ed299cbf65d22e05e21822f8c0d2f4e1386eaf3ba30","d15c361bf7f60d05a061568e655d84822895b272e7bd117af0f858b27cd30c9b","d37fa1fcb6093559fb8be8e12db77e91d3781ae83f9a5e59bcd2f8bb43ca7b9e","d55b0296a2cc8320db54c7a81e8b23e6f78a44efee5c7b15f0330e34de6fb5b3","d7e4a0c4f580e75d71566a507935c345ea320df4e69ee1c0959979c4c7fcde24","e442631440a8d8473e756752f51466a704ddaead6154dae5e3e2b8984f396a2e","ec4d0283cb5eef158086e1e2a13b059d3dbf2493f116ce52f0c25d48a05f2605","f0218db0e2dd42d885f3594fbc41c3a990463fdb4e92052fc2740a3902efd40e"],"recordQualifiers":{},"scopeLabel":"ORPHA:137605","sourceIds":["ORPHA:137605"],"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:0012669/OMIM:611431","MONDO:0012669/ORPHA:137605"],"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":10,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":66,"sourceGroups":{"omim":15,"orphanet":42,"published":9}},"features":[{"hpoId":"HP:0000766","label":"Abnormal sternum morphology","primary":false},{"hpoId":"HP:0004845","label":"Acute monocytic leukemia","primary":false},{"hpoId":"HP:0007018","label":"Attention deficit hyperactivity disorder","primary":false},{"hpoId":"HP:0000708","label":"Atypical behavior","primary":false},{"hpoId":"HP:0000997","label":"Axillary freckling","primary":false},{"hpoId":"HP:0410263","label":"Brain imaging abnormality","primary":false},{"hpoId":"HP:0000957","label":"Cafe-au-lait spot","primary":false},{"hpoId":"HP:0000518","label":"Cataract","primary":false},{"hpoId":"HP:0007099","label":"Chiari type I malformation","primary":false},{"hpoId":"HP:0004209","label":"Clinodactyly of the 5th finger","primary":false},{"hpoId":"HP:0100543","label":"Cognitive impairment","primary":false},{"hpoId":"HP:0000750","label":"Delayed speech and language","primary":false},{"hpoId":"HP:0100252","label":"Diaphyseal dysplasia","primary":false},{"hpoId":"HP:0000494","label":"Downslanted palpebral fissures","primary":false},{"hpoId":"HP:0001332","label":"Dystonia","primary":false},{"hpoId":"HP:0000286","label":"Epicanthus","primary":false},{"hpoId":"HP:0001480","label":"Freckling","primary":false},{"hpoId":"HP:0100245","label":"Gastrointestinal desmoid tumor","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0000218","label":"High palate","primary":false},{"hpoId":"HP:0002705","label":"High, narrow 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:0030052","label":"Inguinal freckling","primary":false},{"hpoId":"HP:0000787","label":"Kidney stone","primary":false},{"hpoId":"HP:0009737","label":"Lisch nodules","primary":false},{"hpoId":"HP:0002162","label":"Low posterior hairline","primary":false},{"hpoId":"HP:0000369","label":"Low-set ears","primary":false},{"hpoId":"HP:0000256","label":"Macrocephaly","primary":false},{"hpoId":"HP:0032077","label":"Male urethral meatus stenosis","primary":false},{"hpoId":"HP:0000347","label":"Micrognathia","primary":false},{"hpoId":"HP:0001634","label":"Mitral valve prolapse","primary":false},{"hpoId":"HP:0001270","label":"Motor delay","primary":false},{"hpoId":"HP:0007565","label":"Multiple cafe-au-lait spots","primary":false},{"hpoId":"HP:0001012","label":"Multiple lipomas","primary":false},{"hpoId":"HP:0100006","label":"Neoplasm of the central nervous system","primary":false},{"hpoId":"HP:0002667","label":"Nephroblastoma","primary":false},{"hpoId":"HP:0001067","label":"Neurofibroma","primary":false},{"hpoId":"HP:0030358","label":"Non-small cell lung carcinoma","primary":false},{"hpoId":"HP:0009734","label":"Optic nerve glioma","primary":false},{"hpoId":"HP:0100615","label":"Ovarian neoplasm","primary":false},{"hpoId":"HP:0006671","label":"Paroxysmal atrial tachycardia","primary":false},{"hpoId":"HP:0000767","label":"Pectus excavatum","primary":false},{"hpoId":"HP:0010442","label":"Polydactyly","primary":false},{"hpoId":"HP:0000358","label":"Posteriorly rotated ears","primary":false},{"hpoId":"HP:0000508","label":"Ptosis","primary":false},{"hpoId":"HP:0001642","label":"Pulmonic stenosis","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0000736","label":"Short attention span","primary":false},{"hpoId":"HP:0000470","label":"Short neck","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0001328","label":"Specific learning disability","primary":false},{"hpoId":"HP:0034349","label":"Supravalvar pulmonary stenosis","primary":false},{"hpoId":"HP:0000325","label":"Triangular face","primary":false},{"hpoId":"HP:0009588","label":"Vestibular schwannoma","primary":false},{"hpoId":"HP:0001114","label":"Xanthelasma","primary":false}],"ledeHtml":"Legius syndrome is a condition characterized by changes in skin coloring (pigmentation). Almost all affected individuals have multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. Another pigmentation change, freckles in the armpits and groin, may occur in some affected individuals.","mondoId":"MONDO:0012669","records":[{"frequencyKind":"range","key":"0206aa29fe8793a8f9dcb9d91667f3d4c12444e25c03ac9df5bd6f44224e206c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001328","is_excluded":false,"label":"Specific learning disability","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"0ec63fdae3e218decb3986a9c3e96713b742db44d7d795d8d95b0c15caa496d7","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000470","is_excluded":false,"label":"Short neck","onset_id":null,"reference":"OMIM:611431","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"179312ec453188b073ef48a16b74e99c98feb9691ca80ed023a36189301b62a2","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001012","is_excluded":false,"label":"Multiple lipomas","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"19d0e8c8cba164e367cacded0de441259f431fc1e1f85205a83a71429e318ab5","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001634","is_excluded":false,"label":"Mitral valve prolapse","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"1b43b776c88d8bd1eb30f7940b3c959dd48851fa7a22fc230872dd9fbd7039b4","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"OMIM:611431","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"1c7022aee625f2c102f38270705afef560bf7e95fafc21c33497f677e42b67eb","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"OMIM:611431","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"2370584a264315c23939cdb2a961e1c4237d121600292d42bbb087813b581099","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000325","is_excluded":false,"label":"Triangular face","onset_id":null,"reference":"OMIM:611431","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"264c18098364d1edfb278a42674f08f9c0bdc406eeccc6ddc0ac2a55346a8586","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000766","is_excluded":false,"label":"Abnormal sternum morphology","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"29a32a8becb2995b2bc2de3ef800000c27cac943a81033e28aeac5d20e63f4fe","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0009588","is_excluded":false,"label":"Vestibular schwannoma","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"29aec345697d410d025c3420643cc286b0ee8ab0217de69cbdd8be85bebd7d69","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"PCS","frequency_raw":"1/40","hpo_id":"HP:0034349","is_excluded":false,"label":"Supravalvar pulmonary stenosis","onset_id":null,"reference":"PMID:17704776","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2d08bf7384ef9b45a292cf9b149e0623276b3cce8e686967894ccb0b09a03068","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"39c02cf4980e1efc540150deae156a9ca7337207e180f2acd8312da7c505c01d","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001067","is_excluded":true,"label":"Neurofibroma","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3e5c445d5f63e96c48fa49a7f58b850829ce4ceb924f3646a11fac870f4a8de5","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0032077","is_excluded":false,"label":"Male urethral meatus stenosis","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"48e8ea02432c60fecb7bac9766abe5a193b04abe20aa95b2349b2e87739c76f5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"4b9fe8ff0259e0960645d58af32b56af82f25165e934933c88b19b317ea08f32","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"PCS","frequency_raw":"14/43","hpo_id":"HP:0001480","is_excluded":false,"label":"Freckling","onset_id":null,"reference":"PMID:17704776","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"4ba7e891acb1364739938fc82f61b62288b0f3e986f93b4bbdf4cd7ae477e79f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"OMIM:611431","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"50ba725e1f859d66eef5df8d7f6083490cd9172fcddafbdc0efc5691a47fe121","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"IEA","frequency_raw":"0/18","hpo_id":"HP:0001067","is_excluded":true,"label":"Neurofibroma","onset_id":null,"reference":"OMIM:611431","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"58a9a4d5b6c7efaaa1c985dccd23c0aa224c9bfdee162404d9ba9d161bc93983","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"59a93de3cbc87d9a0b151061104918525d90ba306ce9d679d2e87cabf5aeb1cf","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0030052","is_excluded":false,"label":"Inguinal freckling","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5dabd793392974f4798041df11b7f469c506b0bf60f2dd857e8c243b80583b92","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0004845","is_excluded":false,"label":"Acute monocytic leukemia","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"619be2c44ccf220c87edbd11f46862f5f03c7d462c6d83fad84091796a117c09","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"PCS","frequency_raw":"3/40","hpo_id":"HP:0000767","is_excluded":false,"label":"Pectus excavatum","onset_id":null,"reference":"PMID:17704776","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"65f31f6491ad612c8b82c4559d9fb5a3f1611b3e9f7fa9972147b59c5ec8f17b","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"PCS","frequency_raw":"9/18","hpo_id":"HP:0030052","is_excluded":false,"label":"Inguinal freckling","onset_id":null,"reference":"PMID:19366998","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"66f1282396bb176580a3580d08078de39c935f665707e0cea8ac5ce16cac5031","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0007018","is_excluded":false,"label":"Attention deficit hyperactivity disorder","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6acc58756b7ded62c5710afc416384ed413f84c1db64f987145571f31e95de6b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0100543","is_excluded":false,"label":"Cognitive impairment","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7053ef3f2a74a1e1dd580ed20d56be801e3ab41658fd8c61e3abcdbbd6f1f54c","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000997","is_excluded":false,"label":"Axillary freckling","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"71a7f96b2c1c76c3d690a9d9053b1b685beddb8f272f20fd703cf7dd22103af9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"73251681c9a43bb3e8cb58ac508fac462b9eb1aa28196a4b4f840e36501a3238","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0009734","is_excluded":true,"label":"Optic nerve glioma","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"734305cdc2751bec74fadc104330464404d49e345927a0dc3f6bb50c5dfe8108","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"PCS","frequency_raw":"11/40","hpo_id":"HP:0001012","is_excluded":false,"label":"Multiple lipomas","onset_id":null,"reference":"PMID:17704776","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"78586257c92e31d3f251157426c29777cd12e5c103a9834d4ee2155fdf696157","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"OMIM:611431","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7d0a7a21c294cab9943b79defad22e9556e2c90459b20d8d9957e0192e88a103","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000752","is_excluded":false,"label":"Hyperactivity","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"7db9e43ecefb529f1f831eeb89cefbc1ca3b65180dd97a6ab3d8297b30bcde44","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000358","is_excluded":false,"label":"Posteriorly rotated ears","onset_id":null,"reference":"OMIM:611431","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"7f2e80c2e8ac392d6df6e8961c3b4f3236c68b08eb86cf530e24c8255cadd062","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002705","is_excluded":false,"label":"High, narrow palate","onset_id":null,"reference":"OMIM:611431","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8899bd18da7422f9c21c8566fb0e1ea9858e524a6aa80dfc54d5f76ec4018e6d","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0007565","is_excluded":false,"label":"Multiple cafe-au-lait spots","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8973b31c09d611739d638db7c3a738988d381618e7e8b121f10768ecf5b786ea","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0006671","is_excluded":false,"label":"Paroxysmal atrial tachycardia","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8b98ea77426ef50dd459ef95232b90e6da4ece1e3e22e4a336643ae6fea25665","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002162","is_excluded":false,"label":"Low posterior hairline","onset_id":null,"reference":"OMIM:611431","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8c44286aa41b950cd71ac69e93508bc53a0013388f236319eb57c5a6a783eedb","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"PCS","frequency_raw":"7/49","hpo_id":"HP:0000256","is_excluded":false,"label":"Macrocephaly","onset_id":null,"reference":"PMID:17704776;PMID:19366998","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8fb7287831a9380743858779e58fff0a3deacdd1fab243d951d9f5525029c17e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0007099","is_excluded":false,"label":"Chiari type I malformation","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"97691f2c64389c818ae7149f312c80a77bcf64b7ae4d1c4a07c789db4ec864a5","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001642","is_excluded":false,"label":"Pulmonic stenosis","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"98482169c2dc3486204505da80c66109c72646816ecbe977b8f6e5c8bdcf3885","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001328","is_excluded":false,"label":"Specific learning disability","onset_id":null,"reference":"OMIM:611431","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9a6b32a19a7511ca6d83e73a003bd4826bdb00fa4d8933a6d7c08ad15897642e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0004209","is_excluded":false,"label":"Clinodactyly of the 5th finger","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9c66df24ce51b3455f69931e79f954039ab78f75a1e67d03f0b0c4ac63eed364","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"PCS","frequency_raw":"62/62","hpo_id":"HP:0000957","is_excluded":false,"label":"Cafe-au-lait spot","onset_id":null,"reference":"PMID:17704776;PMID:19366998","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"9d5c40b08f9d0c5aef87272980f88ff9735b81dd877ace5444452b1259c88980","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0100252","is_excluded":true,"label":"Diaphyseal dysplasia","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"9e88084e154bd4c4dcf6f1ddf8e1355838fdc3e283033d60e84c13d79ff1f424","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0100006","is_excluded":true,"label":"Neoplasm of the central nervous system","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9fb4a575b64046035dde3a5f99214a298c540fc607018c7b0476fd8a34df929f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a4c2a26187e32d08aa1a93a18712061fcb701179977445eb0bd78179498f65ab","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000508","is_excluded":false,"label":"Ptosis","onset_id":null,"reference":"OMIM:611431","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a7932dedb670c3215dbe818520564635088b98fba90b86936045653e0fc0e5c0","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000256","is_excluded":false,"label":"Macrocephaly","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a7d556a548594568d32c82ab9f9f19a5995925b01e6e488983a96a49467c510b","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0030358","is_excluded":false,"label":"Non-small cell lung carcinoma","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b6bddfb3dda3ffa7d045e2f6088ee82383d0d9aae62380ee9369d7debf9267d5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0410263","is_excluded":false,"label":"Brain imaging abnormality","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b83006614915de067ceae4a11fd77eccd751b60ef6c52a1828da6cae56f30efb","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b8b65b27a61f67a5900a3c597915039fed10f3fc90707be6480dece525567a7d","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"OMIM:611431","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"bce992a482d1c02b8436f00536f86c9b6ebbf907c127cd20d060619e577c5177","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0009737","is_excluded":true,"label":"Lisch nodules","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c0461c945a130f1c74daa617339548f5b5e39548a2d7c555616d5fbf54da2e7d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000736","is_excluded":false,"label":"Short attention span","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c127acfc4ad3fdd4830c82f07916a32500f84df77f1c1c2fc12777a48a7fc04b","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0100615","is_excluded":false,"label":"Ovarian neoplasm","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c4d1a2459a7fc7154ef859845259a57fcfb060e10eccc5ee6e54e75b36344570","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ca88dc3ac39c6d054c9b9ed299cbf65d22e05e21822f8c0d2f4e1386eaf3ba30","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000787","is_excluded":false,"label":"Kidney stone","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d15c361bf7f60d05a061568e655d84822895b272e7bd117af0f858b27cd30c9b","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001114","is_excluded":false,"label":"Xanthelasma","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d37fa1fcb6093559fb8be8e12db77e91d3781ae83f9a5e59bcd2f8bb43ca7b9e","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d55b0296a2cc8320db54c7a81e8b23e6f78a44efee5c7b15f0330e34de6fb5b3","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000518","is_excluded":false,"label":"Cataract","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d7e4a0c4f580e75d71566a507935c345ea320df4e69ee1c0959979c4c7fcde24","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0010442","is_excluded":false,"label":"Polydactyly","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e442631440a8d8473e756752f51466a704ddaead6154dae5e3e2b8984f396a2e","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0100245","is_excluded":false,"label":"Gastrointestinal desmoid tumor","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ec4d0283cb5eef158086e1e2a13b059d3dbf2493f116ce52f0c25d48a05f2605","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002667","is_excluded":false,"label":"Nephroblastoma","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"ed4189f4b4ae7e904b94fcf3017a489d79f9b0ac81e0636648985dfcf36fd0af","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"PCS","frequency_raw":"2/40","hpo_id":"HP:0007018","is_excluded":false,"label":"Attention deficit hyperactivity disorder","onset_id":null,"reference":"PMID:17704776","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f01a30ee3c0109eec14b3fd54784c15942fde910c626ec95906f1f5e3727272a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"OMIM:611431","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f0218db0e2dd42d885f3594fbc41c3a990463fdb4e92052fc2740a3902efd40e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:137605","disease_name":"Legius syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000708","is_excluded":false,"label":"Atypical behavior","onset_id":null,"reference":"ORPHA:137605","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f2e33d9d2cc821cd2068867af5e23b32598dca70d447b2b7e25e784a365b2928","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"PCS","frequency_raw":"10/18","hpo_id":"HP:0000997","is_excluded":false,"label":"Axillary freckling","onset_id":null,"reference":"PMID:19366998","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f960f495e8f0ddf52b22c7e49bff41fc470c1b4e3ffc238fcb5329584e4eb347","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:611431","disease_name":"Legius syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000286","is_excluded":false,"label":"Epicanthus","onset_id":null,"reference":"OMIM:611431","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/legius-syndrome\">Legius 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>Mutations in the SPRED1 gene cause Legius syndrome. The SPRED1 gene provides instructions for making the Spred-1 protein. This protein controls (regulates) an important cell signaling pathway that is involved in the growth and division of cells (proliferation), the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis). Mutations in the SPRED1 gene lead to a nonfunctional protein that can no longer regulate the pathway, resulting in overactive signaling. It is unclear how mutations in the SPRED1 gene cause the signs and symptoms of Legius syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/legius-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Legius syndrome?"},{"bodyHtml":"<p>Other signs and symptoms of Legius syndrome may include an abnormally large head (macrocephaly) and unusual facial characteristics. Although most people with Legius syndrome have normal intelligence, some affected individuals have been diagnosed with learning disabilities, attention-deficit disorder (ADD), or attention-deficit/hyperactivity disorder (ADHD).</p><p>Many of the signs and symptoms of Legius syndrome also occur in a similar disorder called neurofibromatosis type 1. It can be difficult to tell the two disorders apart in early childhood. However, the features of the two disorders differ later in life.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/legius-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"legius-syndrome","sourceDocuments":[{"name":"Legius syndrome","reviewed":"2011-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:52.347328+00:00","label":"Causes","pageSha256":"51aefbf02d61b30dd429304d73ee1922b4963d36f5a78457aa6f7c511edda47b","sourceUrl":"https://medlineplus.gov/genetics/condition/legius-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/legius-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":"Legius syndrome"},"schemaVersion":1}