{"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:0012960/OMIM:612621","label":"Intellectual developmental disorder, autosomal dominant 5","mondoId":"MONDO:0012960","onsetQualifier":null,"recordKeys":["074ac3c5c67d2c62d837481db86b81c3b233ec3a9997cff194c12b8171e714f3","16406ece778741887c10d37f59b028df89ef4e075df37c482d2727b6f62c8e0d","1b5512b96c6de940d73e51dfe1fe31fcca7d97164f7971406b73db3742720eb9","32630225168d46709e23ed83850cd58e5f7930aa7da45584319b357ab417be7c","3528ff5a582ea56e6561f904caa89dc10c96ee159bb590520b2a503406a81f7b","4c6bf495c095172130abb56bd1aff7d68be4147d2bd243495e998185a7634610","51b6124e450dda3109d3f1db3ca10d0af7f569c4cc24788b08f5d628d9c7789c","60c2c27b496aa86068a0774af04753acd5edb7c35c947b5e19134b716f3fbb67","662a1fe3f80fa1a5810faf4e532c1b51f746a530be65da52e2bbaef1006a34ab","6ce7ca6503f0ba08dd5971bd6e086856bee0acd0c82436d01a2c7871551c436f","7a90614b479a77b2151e917ef1cee696455aa457f6f0544234a9dea16fcfcd99","7bd59ce85ac91d6a3d60dc9acd8567ee4e8cfa5b62cd88bd77ef2e57646b7af5","7e8476f7b0980c64e54bbc6e8d27b41a0fe24009cecfc3b0af2f3ba5e388a399","86cbc0ab8c0c5f13f454ae0e9f688f2da93b709dbbf73ce52d99d8427af2d87b","912c3b18bb0040e3aa68291c7d0c6d72206883691ab59dab14e6a1ce889dbf78","91dc985cf60321ff8b0dba01d4bad0b11c588c29cf960518d027466a6fcbe0f1","add366659f44f9fc7e10464b46b63811dd142a83a6999847a931c7d3c34144fe","c445865af3dbe35b5587324bcfe6697d6651d8542b5712bae67f24d89027016b","c74214c2d21a6a12a19eb7320e83c77e3e183445a6d9781d1ee5d8f86391de24"],"recordQualifiers":{},"scopeLabel":"OMIM:612621","sourceIds":["OMIM:612621"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0012960/ORPHA:544254","label":"SYNGAP1-related developmental and epileptic encephalopathy","mondoId":"MONDO:0012960","onsetQualifier":null,"recordKeys":["00e1685864eb88dbd3874bdc7c0f4c6d365f8fe6dbe27973c946b48122a0d7c6","0e07cfb5181f9284ac9e6fea054461ca7ec74b895fa07dfb8fcff608db8a60a8","13e1c48dc21c006ff9f246e985f8a4423955288fcb3350a97dfb08a0e238ba56","1803318a6d422dc07deeffa382ed930fbaf48a5bbcf5c5906d7a6b81eca9a839","196917a5219b686e968e3d8d90945907b0f45d13ce47cd0b854613bd099240c3","1fd6607c8c7e5f2d8cca6f10c7c24777de6f9216f69e70113ff2eda781c8946e","29d495532dbd05ef5f87eb96e22c78b37216cae44bbe6552fe226e289b325162","2a3ffd91b095afcf7012385661da1712032f20f0cc66c6a6ae6c3c0f7b322c7a","2d1e99716159e9e29fd191c84f8ab87f1104bc0cd83d20c32a871acfbdf72a04","3355bfcf21340da6151c6dc6ab1dc62293366aff806a24e08ab666322d0dadeb","35ad91b4e33682d56d9698406903be5b1b331906b829d7bb12dd1f773273a8c6","42a9706fcc38f215941c1d54ed0fda8544e4ef74bdb25c27194415766367cdc0","463607edeec2d8a28ddd49164d1703793da7c77c7490ac976892ea82df631201","505951f96c3addddc3a32b76a53d62da1b5b33e7904aff972fb2b7f84ca3f33c","591f3559117dc3098d42c721805a3aeeb422b09e8a0c80913df6327674b2b6a4","5f90c6781c5e35cf8ace503023905f545bdbb46e973c80395e8efd34ba18f5a5","6662aa5621b04d335442776d56916e61ee7e011323aa8b94835240812d963fb7","6fa08f5dc65f0c5f35cc6e4b75c0597245bc41ffbf8470c7946aa8cfe2ff5d41","77501437cf3b2869e41cae6a8cb399c244d8dbc2d72833fc9ee1f45ec1c2a484","783c9b6e6e06166dbeecf6610ca9da18b4236b4b530a72e602b1f6e426b5ddb5","82210698013cc9fe7ae9004f2d84d0198d9f9e2f9d8f2a4acb97965683fe549b","8ec3c9433ec3e0636c8e482470c30a6a942a7a8d1dae06da1693de30b3a3f33e","90dfa800f0107e79f3e165ec25422913d926156df1515caa297425d5bfd5ea2e","94e55251eb1c1ee49af814b7d7c0215425f3e0716663fdbac72d65539f8b6540","97eea364534b7812a39bdb7ee3b8ffa279f571b0a1d06b79e599abc639e88637","a54f46e6c3d5a7f546a572a31f6acbec9660e3cc924e38dd2c0de021806af75b","a7d0b10d89fb11f7ea8159bc79149fec7ae950c03e0ab3f05df8ae4fa2221ac9","ababc9e8e5d828090b39775f0a4826e1166dd4380bfc3689beeeda8e56ec5a74","ac1f62bb7c5b9165c5a259d753a269ec3900f57ed9c20b918f2871bcb05ccd4c","b04da0d09129ff3c1db14bdb1564641585967358cf3e6b4b533aa20c5b70b1c1","b2204ee1a141178f1ded81e9bfeb94180624921a4532338af814583d8898009d","b3310ad03238325f6aae4447885e359ed9fe114ca9058c14d5284a34b0e2fed6","b6f78e650114bd668bf5a157c9662c07cffdb40743f1a933cba47fdaaf3a282b","ba1921c37acbf3a798eb335b87de1b30ae84c0f8dc708462fb486e3fa6c0debd","bea89164d37c00c5e9e7d97827f9303b0194e2f3f3da423905e54cdad90984a2","c605c76e1f53178d8c2ffe98f1b1af0169f2849b94a80afc7e5f5c43f7cbd282","d3fcaffbaed2ee380b9501cd035f70ee8ba163d0d2a78f0537330676eb1bcd24","d788ee63c2b4bbcd2f39b85377060529b984c97108292922c765014d057e096c","d8c9b885051267ab29d39f3e0831e5e22eb42ed8d64f5c5bfbf190b09df37cbe","e32f4173c796df7b7b255bfe8a96576e57b75ae958817459b4917c13b3f085bc","f67caaec042864d833cf1ea8ffc90a63132ea36206c2e630f04076c76f468eb4"],"recordQualifiers":{},"scopeLabel":"ORPHA:544254","sourceIds":["ORPHA:544254"],"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:0012960/OMIM:612621","MONDO:0012960/ORPHA:544254"],"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":14,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":60,"sourceGroups":{"omim":3,"orphanet":41,"published":16}},"features":[{"hpoId":"HP:0100738","label":"Abnormal eating behavior","primary":false},{"hpoId":"HP:0001999","label":"Abnormal facial shape","primary":false},{"hpoId":"HP:0012703","label":"Abnormal subarachnoid space morphology","primary":false},{"hpoId":"HP:0030810","label":"Abnormal tongue physiology","primary":false},{"hpoId":"HP:0010832","label":"Abnormality of pain sensation","primary":false},{"hpoId":"HP:0001344","label":"Absent speech","primary":false},{"hpoId":"HP:0040080","label":"Anteverted ears","primary":false},{"hpoId":"HP:0001251","label":"Ataxia (coordination difficulty)","primary":false},{"hpoId":"HP:0000708","label":"Atypical behavior","primary":false},{"hpoId":"HP:0000729","label":"Autistic behavior","primary":false},{"hpoId":"HP:0002069","label":"Bilateral tonic-clonic seizure","primary":false},{"hpoId":"HP:0012444","label":"Brain atrophy","primary":false},{"hpoId":"HP:0005988","label":"Congenital muscular torticollis","primary":false},{"hpoId":"HP:0000992","label":"Cutaneous photosensitivity","primary":false},{"hpoId":"HP:0000490","label":"Deeply set eye","primary":false},{"hpoId":"HP:0000750","label":"Delayed speech and language","primary":false},{"hpoId":"HP:0002376","label":"Developmental regression","primary":false},{"hpoId":"HP:0002307","label":"Drooling","primary":false},{"hpoId":"HP:0020208","label":"Eating-induced seizure","primary":false},{"hpoId":"HP:0002353","label":"EEG abnormality","primary":false},{"hpoId":"HP:0200134","label":"Epileptic encephalopathy","primary":false},{"hpoId":"HP:0008872","label":"Feeding difficulties in infancy","primary":false},{"hpoId":"HP:0001288","label":"Gait disturbance","primary":false},{"hpoId":"HP:0002197","label":"Generalized-onset seizure","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0000218","label":"High palate","primary":false},{"hpoId":"HP:0000047","label":"Hypospadias","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0002311","label":"Incoordination","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0002463","label":"Language impairment","primary":false},{"hpoId":"HP:0000276","label":"Long face","primary":false},{"hpoId":"HP:0000400","label":"Macrotia","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0002342","label":"Moderate intellectual disability","primary":false},{"hpoId":"HP:0001270","label":"Motor delay","primary":false},{"hpoId":"HP:0011150","label":"Myoclonic absence seizure","primary":false},{"hpoId":"HP:0000160","label":"Narrow mouth","primary":false},{"hpoId":"HP:0008770","label":"Obsessive-compulsive trait","primary":false},{"hpoId":"HP:0002465","label":"Poor speech","primary":false},{"hpoId":"HP:0100259","label":"Postaxial polydactyly","primary":false},{"hpoId":"HP:0100023","label":"Recurrent hand flapping","primary":false},{"hpoId":"HP:0012760","label":"Reduced social responsiveness","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0010864","label":"Severe intellectual disability","primary":false},{"hpoId":"HP:0002360","label":"Sleep disturbance","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false},{"hpoId":"HP:0000233","label":"Thin vermilion border","primary":false},{"hpoId":"HP:0000473","label":"Torticollis","primary":false},{"hpoId":"HP:0001337","label":"Tremor","primary":false},{"hpoId":"HP:0000325","label":"Triangular face","primary":false},{"hpoId":"HP:0000154","label":"Wide mouth","primary":false}],"ledeHtml":"SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. Many people with this condition have weak muscle tone (hypotonia), which contributes to the difficulty with motor skills. Some affected individuals lose skills they had already acquired (developmental regression). Other features of SYNGAP1-related intellectual disability include recurrent seizures (epilepsy), hyperactivity, and autism spectrum disorder, which is characterized by impaired communication and social interaction; almost everyone with SYNGAP1-related intellectual disability develops epilepsy, and about half have autism spectrum disorder.","mondoId":"MONDO:0012960","records":[{"frequencyKind":"range","key":"00e1685864eb88dbd3874bdc7c0f4c6d365f8fe6dbe27973c946b48122a0d7c6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012760","is_excluded":false,"label":"Reduced social responsiveness","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"074ac3c5c67d2c62d837481db86b81c3b233ec3a9997cff194c12b8171e714f3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612621","disease_name":"Intellectual developmental disorder, autosomal dominant 5","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0200134","is_excluded":false,"label":"Epileptic encephalopathy","onset_id":null,"reference":"PMID:19196676","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"0e07cfb5181f9284ac9e6fea054461ca7ec74b895fa07dfb8fcff608db8a60a8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001337","is_excluded":false,"label":"Tremor","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"13e1c48dc21c006ff9f246e985f8a4423955288fcb3350a97dfb08a0e238ba56","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"16406ece778741887c10d37f59b028df89ef4e075df37c482d2727b6f62c8e0d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612621","disease_name":"Intellectual developmental disorder, autosomal dominant 5","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002353","is_excluded":false,"label":"EEG abnormality","onset_id":null,"reference":"OMIM:612621","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"1803318a6d422dc07deeffa382ed930fbaf48a5bbcf5c5906d7a6b81eca9a839","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000276","is_excluded":false,"label":"Long face","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"196917a5219b686e968e3d8d90945907b0f45d13ce47cd0b854613bd099240c3","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000400","is_excluded":false,"label":"Macrotia","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"1b5512b96c6de940d73e51dfe1fe31fcca7d97164f7971406b73db3742720eb9","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:612621","disease_name":"Intellectual developmental disorder, autosomal dominant 5","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"PMID:19196676","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1fd6607c8c7e5f2d8cca6f10c7c24777de6f9216f69e70113ff2eda781c8946e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001288","is_excluded":false,"label":"Gait disturbance","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"29d495532dbd05ef5f87eb96e22c78b37216cae44bbe6552fe226e289b325162","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000233","is_excluded":false,"label":"Thin vermilion border","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2a3ffd91b095afcf7012385661da1712032f20f0cc66c6a6ae6c3c0f7b322c7a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000160","is_excluded":false,"label":"Narrow mouth","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2d1e99716159e9e29fd191c84f8ab87f1104bc0cd83d20c32a871acfbdf72a04","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002311","is_excluded":false,"label":"Incoordination","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"32630225168d46709e23ed83850cd58e5f7930aa7da45584319b357ab417be7c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612621","disease_name":"Intellectual developmental disorder, autosomal dominant 5","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002376","is_excluded":false,"label":"Developmental regression","onset_id":null,"reference":"OMIM:612621","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3355bfcf21340da6151c6dc6ab1dc62293366aff806a24e08ab666322d0dadeb","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012703","is_excluded":false,"label":"Abnormal subarachnoid space morphology","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3528ff5a582ea56e6561f904caa89dc10c96ee159bb590520b2a503406a81f7b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612621","disease_name":"Intellectual developmental disorder, autosomal dominant 5","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0002069","is_excluded":false,"label":"Bilateral tonic-clonic seizure","onset_id":null,"reference":"PMID:19196676","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"35ad91b4e33682d56d9698406903be5b1b331906b829d7bb12dd1f773273a8c6","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0040080","is_excluded":false,"label":"Anteverted ears","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"42a9706fcc38f215941c1d54ed0fda8544e4ef74bdb25c27194415766367cdc0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"463607edeec2d8a28ddd49164d1703793da7c77c7490ac976892ea82df631201","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0020208","is_excluded":false,"label":"Eating-induced seizure","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"4c6bf495c095172130abb56bd1aff7d68be4147d2bd243495e998185a7634610","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:612621","disease_name":"Intellectual developmental disorder, autosomal dominant 5","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"PMID:19196676","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"505951f96c3addddc3a32b76a53d62da1b5b33e7904aff972fb2b7f84ca3f33c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001999","is_excluded":false,"label":"Abnormal facial shape","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"51b6124e450dda3109d3f1db3ca10d0af7f569c4cc24788b08f5d628d9c7789c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612621","disease_name":"Intellectual developmental disorder, autosomal dominant 5","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"PMID:21237447","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"591f3559117dc3098d42c721805a3aeeb422b09e8a0c80913df6327674b2b6a4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008770","is_excluded":false,"label":"Obsessive-compulsive trait","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5f90c6781c5e35cf8ace503023905f545bdbb46e973c80395e8efd34ba18f5a5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001344","is_excluded":false,"label":"Absent speech","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"60c2c27b496aa86068a0774af04753acd5edb7c35c947b5e19134b716f3fbb67","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612621","disease_name":"Intellectual developmental disorder, autosomal dominant 5","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0012444","is_excluded":false,"label":"Brain atrophy","onset_id":null,"reference":"PMID:21237447","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"662a1fe3f80fa1a5810faf4e532c1b51f746a530be65da52e2bbaef1006a34ab","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:612621","disease_name":"Intellectual developmental disorder, autosomal dominant 5","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0005988","is_excluded":false,"label":"Congenital muscular torticollis","onset_id":null,"reference":"PMID:19196676","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6662aa5621b04d335442776d56916e61ee7e011323aa8b94835240812d963fb7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000729","is_excluded":false,"label":"Autistic behavior","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"6ce7ca6503f0ba08dd5971bd6e086856bee0acd0c82436d01a2c7871551c436f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:612621","disease_name":"Intellectual developmental disorder, autosomal dominant 5","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0002307","is_excluded":false,"label":"Drooling","onset_id":null,"reference":"PMID:19196676","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6fa08f5dc65f0c5f35cc6e4b75c0597245bc41ffbf8470c7946aa8cfe2ff5d41","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"77501437cf3b2869e41cae6a8cb399c244d8dbc2d72833fc9ee1f45ec1c2a484","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000992","is_excluded":false,"label":"Cutaneous photosensitivity","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"783c9b6e6e06166dbeecf6610ca9da18b4236b4b530a72e602b1f6e426b5ddb5","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000325","is_excluded":false,"label":"Triangular face","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7a90614b479a77b2151e917ef1cee696455aa457f6f0544234a9dea16fcfcd99","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612621","disease_name":"Intellectual developmental disorder, autosomal dominant 5","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0011150","is_excluded":false,"label":"Myoclonic absence seizure","onset_id":null,"reference":"PMID:19196676","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7bd59ce85ac91d6a3d60dc9acd8567ee4e8cfa5b62cd88bd77ef2e57646b7af5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612621","disease_name":"Intellectual developmental disorder, autosomal dominant 5","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000473","is_excluded":false,"label":"Torticollis","onset_id":null,"reference":"PMID:19196676","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7e8476f7b0980c64e54bbc6e8d27b41a0fe24009cecfc3b0af2f3ba5e388a399","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612621","disease_name":"Intellectual developmental disorder, autosomal dominant 5","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"PMID:19196676","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"82210698013cc9fe7ae9004f2d84d0198d9f9e2f9d8f2a4acb97965683fe549b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0010864","is_excluded":false,"label":"Severe intellectual disability","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"86cbc0ab8c0c5f13f454ae0e9f688f2da93b709dbbf73ce52d99d8427af2d87b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612621","disease_name":"Intellectual developmental disorder, autosomal dominant 5","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000729","is_excluded":false,"label":"Autistic behavior","onset_id":null,"reference":"PMID:21237447","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8ec3c9433ec3e0636c8e482470c30a6a942a7a8d1dae06da1693de30b3a3f33e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100738","is_excluded":false,"label":"Abnormal eating behavior","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"90dfa800f0107e79f3e165ec25422913d926156df1515caa297425d5bfd5ea2e","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000047","is_excluded":false,"label":"Hypospadias","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"912c3b18bb0040e3aa68291c7d0c6d72206883691ab59dab14e6a1ce889dbf78","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612621","disease_name":"Intellectual developmental disorder, autosomal dominant 5","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:19196676","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"91dc985cf60321ff8b0dba01d4bad0b11c588c29cf960518d027466a6fcbe0f1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612621","disease_name":"Intellectual developmental disorder, autosomal dominant 5","evidence":"PCS","frequency_raw":"4/6","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"PMID:21237447","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"94e55251eb1c1ee49af814b7d7c0215425f3e0716663fdbac72d65539f8b6540","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002465","is_excluded":false,"label":"Poor speech","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"97eea364534b7812a39bdb7ee3b8ffa279f571b0a1d06b79e599abc639e88637","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008872","is_excluded":false,"label":"Feeding difficulties in infancy","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a54f46e6c3d5a7f546a572a31f6acbec9660e3cc924e38dd2c0de021806af75b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a7d0b10d89fb11f7ea8159bc79149fec7ae950c03e0ab3f05df8ae4fa2221ac9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100259","is_excluded":false,"label":"Postaxial polydactyly","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ababc9e8e5d828090b39775f0a4826e1166dd4380bfc3689beeeda8e56ec5a74","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011150","is_excluded":false,"label":"Myoclonic absence seizure","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ac1f62bb7c5b9165c5a259d753a269ec3900f57ed9c20b918f2871bcb05ccd4c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002360","is_excluded":false,"label":"Sleep disturbance","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"add366659f44f9fc7e10464b46b63811dd142a83a6999847a931c7d3c34144fe","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612621","disease_name":"Intellectual developmental disorder, autosomal dominant 5","evidence":"PCS","frequency_raw":"6/6","hpo_id":"HP:0002342","is_excluded":false,"label":"Moderate intellectual disability","onset_id":null,"reference":"PMID:19196676;PMID:21237447","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b04da0d09129ff3c1db14bdb1564641585967358cf3e6b4b533aa20c5b70b1c1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000708","is_excluded":false,"label":"Atypical behavior","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b2204ee1a141178f1ded81e9bfeb94180624921a4532338af814583d8898009d","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000490","is_excluded":false,"label":"Deeply set eye","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b3310ad03238325f6aae4447885e359ed9fe114ca9058c14d5284a34b0e2fed6","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000154","is_excluded":false,"label":"Wide mouth","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b6f78e650114bd668bf5a157c9662c07cffdb40743f1a933cba47fdaaf3a282b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0030810","is_excluded":false,"label":"Abnormal tongue physiology","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ba1921c37acbf3a798eb335b87de1b30ae84c0f8dc708462fb486e3fa6c0debd","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002197","is_excluded":false,"label":"Generalized-onset seizure","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bea89164d37c00c5e9e7d97827f9303b0194e2f3f3da423905e54cdad90984a2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c445865af3dbe35b5587324bcfe6697d6651d8542b5712bae67f24d89027016b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612621","disease_name":"Intellectual developmental disorder, autosomal dominant 5","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002463","is_excluded":false,"label":"Language impairment","onset_id":null,"reference":"PMID:21237447","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c605c76e1f53178d8c2ffe98f1b1af0169f2849b94a80afc7e5f5c43f7cbd282","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0010832","is_excluded":false,"label":"Abnormality of pain sensation","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c74214c2d21a6a12a19eb7320e83c77e3e183445a6d9781d1ee5d8f86391de24","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612621","disease_name":"Intellectual developmental disorder, autosomal dominant 5","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:612621","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d3fcaffbaed2ee380b9501cd035f70ee8ba163d0d2a78f0537330676eb1bcd24","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d788ee63c2b4bbcd2f39b85377060529b984c97108292922c765014d057e096c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d8c9b885051267ab29d39f3e0831e5e22eb42ed8d64f5c5bfbf190b09df37cbe","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002342","is_excluded":false,"label":"Moderate intellectual disability","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e32f4173c796df7b7b255bfe8a96576e57b75ae958817459b4917c13b3f085bc","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100023","is_excluded":false,"label":"Recurrent hand flapping","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f67caaec042864d833cf1ea8ffc90a63132ea36206c2e630f04076c76f468eb4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:544254","disease_name":"SYNGAP1-related developmental and epileptic encephalopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002376","is_excluded":false,"label":"Developmental regression","onset_id":null,"reference":"ORPHA:544254","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/syngap1-related-intellectual-disability\">SYNGAP1-related intellectual disability</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>SYNGAP1-related intellectual disability is caused by mutations in the SYNGAP1 gene. The protein produced from this gene, called SynGAP, plays an important role in nerve cells in the brain. It is found at the junctions between nerve cells (synapses) and helps regulate changes in synapses that are critical for learning and memory. Mutations involved in this condition prevent the production of functional SynGAP protein from one copy of the gene, reducing the protein&#x27;s activity in cells. Studies show that a reduction of SynGAP activity can have multiple effects in nerve cells, including pushing synapses to develop too early. The resulting abnormalities disrupt the synaptic changes in the brain that underlie learning and memory, leading to cognitive impairment and other neurological problems characteristic of SYNGAP1-related intellectual disability.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/syngap1-related-intellectual-disability/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes SYNGAP1-related intellectual disability?"},{"bodyHtml":"<p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/syngap1-related-intellectual-disability\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"syngap1-related-intellectual-disability","sourceDocuments":[{"name":"SYNGAP1-related intellectual disability","reviewed":"2016-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:22.729663+00:00","label":"Causes","pageSha256":"ad210ea71250cde4a7cb9ce6b7b3a22fb114b58f05702d66e0ea8b04a9d23f6c","sourceUrl":"https://medlineplus.gov/genetics/condition/syngap1-related-intellectual-disability/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/syngap1-related-intellectual-disability"}],"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":"SYNGAP1-related intellectual disability"},"schemaVersion":1}