{"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:0100040/OMIM:613454","label":"Rett syndrome, congenital variant","mondoId":"MONDO:0100040","onsetQualifier":null,"recordKeys":["040d4efbe295878c2f768ac98979cf16819124c4a70d7bbe8e7083f64b0b3a9b","05704b34ba956a5e398244a44f71413f9342d378b2d15bdeb6de3f250c3010eb","0c468a3bf74c901e5e703df0e029228dcefb57b07b4ac84bea32f1251c6a1b68","0f89e4121616ba405c7b51841939a49287f1c3f15116b9da5720bd49b387a8bf","15fd36ee3aeb8f50e4f130700bc71837f79b0dab45146a2fa5de873550f1013e","2013712adc2460df9ed8ae42692f731157f99c19403a078c49ce344114bc37ab","20b6e3cd52a9718ac5efdc02bbd06b1bfc1607009a3ecd1c4a73ff14d67d2b78","22d10abad87d21b5a968c5bd731ab176010654813b33a4870f65ab4c5c648312","271d7fe6930df0cb83ffebc3c731366d8b038dbeab4345440bd03ef09f54c738","388f42f25df6625c4454c189ae29ea7ef81c44690c191b77cb7bf41043e9c82e","3ddfd8a3e745975c7ce0dcde6c0cda9c4a5026152567ff5f8f0ca61d401b4368","41067182edee9aecde938e6a5ac11339a973db65feb1ddeef2ecb825aacb2a11","4226b711dd24ac9f4e4852c68d9d17146cd029a1531533c1f49b0bfd5348d4fd","4d6510aeb88ad94a8331c044ff29d0211ab1fd4b1bdffa914db336739106dd7b","57cdb74fadeb7fbc325535510b72c7a94ad117e0d3eeddff155f6396ca3e9f4b","582eea7e4d95723a8ed406e33758aa86c788e45b0b0bed508f48132af77b4739","58466f99c18e01e82683ed3f43e24e92b66e85d75c8809e8dffa1c06e34f5175","59a0817e2cdc72c1b8f6d8e857f011b24d511f6526dff25666491b978211b91c","59ba3a17e37f3fcb11be5335b4172a06a47ada8af3f526a047b8c2794ecc4045","63a5aaa6ef63f3d242055b4fe69e66bae64df964cb0b96a240984e894d07d355","6ae82e51e3f4ca4f1d5e0942486ac6884429783cb8354d174bd537182bc5a6ec","722175dae369934a3e5b721fabb3e536fc2b7d00a0121d803a9e8629a38f855b","768771a7cfd11d810a416b48e44c87e46beec88959c72bb9c17908cbe174ee10","800e7b5a0fd6c5f810c71c6061bf7aae13e4ea76225205ad7d685c8540b2ed16","8874c5fe5589dee51c6b085a2f92670af4f975eebebae18320a1a308762d11f2","8a195950c32f403b2bcc9e12fdc4dad68604fec544d7f729f9d3b47853408ec5","8d28502bced5b67e2cffb97f224faffe7016fcc4fb0f8c6056e33ad17989cba0","90fc3d7530192308f02c7cfc5d5fd64dedb53d46d8cd55ef0b690eb52b0d44e8","928c52fe916c5867e1605a9c0a7a08915a8815859281c833f6d1d48c42920cfe","9983f28d455c48bcd1c0158ffaf8e943a363ef09331b3e3541a453b885290590","a196bd8ec1cfd0486d03a0d5d66822a8276a13af34d289bd7b4773d5861e7461","a2dd4490c9801a9b08831f6af05a6cc7060476bd6d009c60db9cc1ed86b28fe4","a4487a08dd511222cf4d169ea712a376a968ead81a5f7db317a559af8a7abeaf","a650e6c0896e7f450547cf750a43cbd298d62f24606f65fe135744eb7c43ac87","b5110ceabd4bcd159506f59cacb3b38e4889319ef9a0600f377be67d130ea871","be1bb39b48d133b30566964b7770050cc86b5b1bab95a9b248101df69e772ed5","c3a2efdd5717ccf7f26bc18ddb17286907b14d8fd421cdfc79a27666af962fd0","cbf0f433090516be8042bc4575ea03e07d71fb56f86846334e19abc5811ecc62","cddcef3adc2406d900b86f9cd05c03e30e819f404ea2daaece7a654475c42011","d593d2964a2ef2983c1cf2f35f354c68341df4b916487debc03eabea3c26692b","d92e6785b62a4bc8f927c8d07fa7a7da2fd329881ca0214367043e731b862332","f01a9d33bc699e3074342f30f6a6e397d8f1bfbce00eea6e353dc7d965b0b14e","f0398546b510ea02a4b7db5c436761c0c0f979b6c136b388a48aa9d7e6a19600","f2a1ae64ee5a6a3c2d9ba71edf18dc18233a940611ca4cad92300febe1439511","f384a35e4f8787379b32249d8c3479bd05a015b7559cdf170345bdb712523eec","f5cfebd645f9686cce9dcf393ffce0f809732e931287724f10cbeb61cc4161fb","fca3feac04f14b4eb34bbbe1ee6c585d38d9f084476c3ea9e72ac39632f5d0b7","fd38cb7e5cb00f0dcd8a949d2c4308b8ca3d554872fb37a126efaaf56e445e42"],"recordQualifiers":{},"scopeLabel":"OMIM:613454","sourceIds":["OMIM:613454"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0100040/ORPHA:561854","label":"FOXG1 syndrome","mondoId":"MONDO:0100040","onsetQualifier":null,"recordKeys":["00efec5fa961d2d00eff0f44a0ae0703231387a6f7620aadd2a6e2681e8be455","09a7ef02c915481dfd6c62b9742d0773959c738cf3f4c0985965b737be30e86c","0af5a3cc43ac65ba587db995f5b7cbc41a9fe2ba556d77649f9929fca58335ab","12e8bb17aaac694972d2b92b1a8503d5673cd736a1208df53f5500ad7953bdd3","15b7b2dbc457545e2c8fa2da41aa6d5dfbce9c9778d7089c772dea7cd5cb2853","18af6bdb741423e6d6ea3ceece7cdc734a0a265f42a5f2712c2e3fb3f1cae4ca","1d6ae80c4c7f33bb47400055a32e17575602075b9b3de3bb8c6e7d52ec58fb3b","264617e9699067d11772f640ab2fcbf2ec3c41134ed901912a62e2bd8f71059f","26acbb411317ffd71b2083ca8d06b47574e8afe014a0ec5c61b409773772ebbf","2904841ca688d10728ce6d9d9324e2eb808191800ae10ac863d792ca30972c67","303314994382c204672ab3a2b7fabd655c25a24fe4ee9b4c92e49a3d00cbe5fe","305b87e8a567fa66589a1edd90e406d0cb3f23f5b80e801943210cdd64aff5b2","31ece3dac564b65c6acc200faac8f37e0ceda21f79fda97e541f21be80ac85bd","33eda667595ca7fee98212dfbafda15e5285244c0388921cb24a21577baa39db","39ab6be4e9ba3a3d41497f7dfbd990eda954a5214319c48d655ae13fab519ef2","45d060186cd05fb496f4cc1bbe5bca7bd8a59358717b3647f99a6557955fa55b","48545266b73674c3f1d6d1ff508ea386444e8d5ac420abd475b30e6d06d7955f","48f5066464a9de8efd0564772d16bd3a3e711f258f745b127fd3864b95eebac6","5200b6e344cda9d5bdba3436e07a5a6e267863d4332f094bcba6f0034cf7279b","527e3731e8fd01546289519d0024d260da5329df28d20338e76b202994ec73df","54ab483e661e22978bbe74c36c3d32de4436848a666fd2ac7b74b4ff6b9f7dac","5ce8d1cdb82c99624c0e94634d8c043804f241cc13feee00d05f055e955837b6","6ba45933054f8daeb6ba88e9d6a33a5209c90cb4c24a22af431a179ee278b78a","70aac88171075d8f63128aeb0e2cf6a728df3495308c113ed1efa68022c51d2a","87da31b08cac0e0d7b1235990f94da44b37e6ffa4dddcab54bba44cc69e25f23","8b9c27a032b42e69d644b848dcc82dd6c632f372bfc123ff60f93a2d62750ca1","8f015a2d7fec2aa9d773f31ab497876be8e3207d5aac91d6895ff344fad147e5","98cb8cd34cc81f187d0ab851bcce5a44eb34771f88cd26c690723fccc166a862","994e0fca2e7f57ea252e7c887914620a03e8dbf7bfb60c5c3185b37827f0027e","9db96d680c76f413057c97ca8ab4c90018af6aa7dde8c254338fc7ad846b9a28","9dbddcc469132f1baf5f3d80455ffb5f431c31d8c4693387784bf6ed79153414","9f1f92d49d4504f44d71e8575bc9c274eb681efed06f1546580abe95e9d00d1c","ac013d638b0c3e00e96081cb3a26d2ae3162639f6f7780bbd308ef1a01a1e183","add390fdeabc9765ca6177cb23d8788a132fdc5020ce8cc836143ebca6fe70b2","b40164febb77f168bb7a0d64dbe87e59c759f6510773f14cf0917f77dfbd1afe","bc69b78470502f49f1776410f2cfd14808767169d1fda39048bb96a0254248b6","bddd9d739b30cd43cc98c4c0990f0672de10c6de7c45cf133a9b902c18fdcbe4","be210d9544b6a446fc21ae8a4cee3f72b7d4a63c6218d0efaff6c419b7925a10","c5ca1059267768db624a7bdae937290844a22fb1a99b63112827825b5a277a36","c97150da822c280efc86e4fb6334eb867ab73c7b204b9bc43863f871e61be2d0","cb291f3021b9129bc7f3abbfaa5d97bf3a8c2f0068ce3f2b657157d60f30ab9c","d8b4b43947776b41c8e36acd31d6975156fce35983bb74f199cd24d56417d66f","dd27a2d2de95e44eb248780a5eab47e411f90bfa909755e9c6707c3bbe47fe7e","dd6d405e2c7cc8131fb6d140c0d9899e94dc676e72286338f5349f9b68ca5e2a","e07cd3ff822a0082ed3743035a3c52668af82546ca0bd0334f3b752825f08c4e","e0efdceb4234dad23971687ae30130a5d8e5b714fdb204c2c4954e5c3fe9b8ff","e428c9236b1c374b91787a5e5b5bed936dce3ec146996476121197cddc7ab7f5","e6c14513d2b5c2aae8de45996da2e6a18e98f5f3c28bc757d92591d8a468baf5","f251224bf2a490fb0adc1b914e2ef56b7633503bfd7023de37f1e1af7d4db48f"],"recordQualifiers":{},"scopeLabel":"ORPHA:561854","sourceIds":["ORPHA:561854"],"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:0100040/OMIM:613454","MONDO:0100040/ORPHA:561854"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"

Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.

"},"coverage":{"countRecords":28,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":97,"sourceGroups":{"omim":14,"orphanet":49,"published":34}},"features":[{"hpoId":"HP:0001273","label":"Abnormal corpus callosum morphology","primary":false},{"hpoId":"HP:0002795","label":"Abnormal respiratory system physiology","primary":false},{"hpoId":"HP:0100022","label":"Abnormality of movement","primary":false},{"hpoId":"HP:0001344","label":"Absent speech","primary":false},{"hpoId":"HP:0001274","label":"Agenesis of corpus callosum","primary":false},{"hpoId":"HP:0002186","label":"Apraxia","primary":false},{"hpoId":"HP:0002835","label":"Aspiration","primary":false},{"hpoId":"HP:0002305","label":"Athetosis","primary":false},{"hpoId":"HP:0000729","label":"Autistic behavior","primary":false},{"hpoId":"HP:0002069","label":"Bilateral tonic-clonic seizure","primary":false},{"hpoId":"HP:0003763","label":"Bruxism","primary":false},{"hpoId":"HP:0000414","label":"Bulbous nose","primary":false},{"hpoId":"HP:0002072","label":"Chorea (involuntary movements)","primary":false},{"hpoId":"HP:0001266","label":"Choreoathetosis","primary":false},{"hpoId":"HP:0100543","label":"Cognitive impairment","primary":false},{"hpoId":"HP:0002019","label":"Constipation","primary":false},{"hpoId":"HP:0004325","label":"Decreased body weight","primary":false},{"hpoId":"HP:0025336","label":"Delayed ability to sit","primary":false},{"hpoId":"HP:0031936","label":"Delayed ability to walk","primary":false},{"hpoId":"HP:0002188","label":"Delayed CNS myelination","primary":false},{"hpoId":"HP:0012448","label":"Delayed myelination","primary":false},{"hpoId":"HP:0000750","label":"Delayed speech and language","primary":false},{"hpoId":"HP:0005280","label":"Depressed nasal bridge","primary":false},{"hpoId":"HP:0002376","label":"Developmental regression","primary":false},{"hpoId":"HP:0002307","label":"Drooling","primary":false},{"hpoId":"HP:0100660","label":"Dyskinesia","primary":false},{"hpoId":"HP:0001332","label":"Dystonia","primary":false},{"hpoId":"HP:0002353","label":"EEG abnormality","primary":false},{"hpoId":"HP:0003781","label":"Excessive salivation","primary":false},{"hpoId":"HP:0011968","label":"Feeding difficulties","primary":false},{"hpoId":"HP:0007359","label":"Focal-onset seizure","primary":false},{"hpoId":"HP:0001288","label":"Gait disturbance","primary":false},{"hpoId":"HP:0002020","label":"Gastroesophageal reflux","primary":false},{"hpoId":"HP:0001290","label":"Generalized hypotonia","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0002487","label":"Hyperkinetic movements","primary":false},{"hpoId":"HP:0002079","label":"Hypoplasia of the corpus callosum","primary":false},{"hpoId":"HP:0007333","label":"Hypoplasia of the frontal lobes","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0002540","label":"Inability to walk","primary":false},{"hpoId":"HP:0030215","label":"Inappropriate crying","primary":false},{"hpoId":"HP:0012469","label":"Infantile spasms","primary":false},{"hpoId":"HP:0000737","label":"Irritability","primary":false},{"hpoId":"HP:0002751","label":"Kyphoscoliosis","primary":false},{"hpoId":"HP:0002808","label":"Kyphosis","primary":false},{"hpoId":"HP:0011800","label":"Midface retrusion","primary":false},{"hpoId":"HP:0001270","label":"Motor delay","primary":false},{"hpoId":"HP:0000733","label":"Motor stereotypy","primary":false},{"hpoId":"HP:0001336","label":"Myoclonus","primary":false},{"hpoId":"HP:0001319","label":"Neonatal hypotonia","primary":false},{"hpoId":"HP:0007766","label":"Optic disc hypoplasia","primary":false},{"hpoId":"HP:0002310","label":"Orofacial dyskinesia","primary":false},{"hpoId":"HP:0001302","label":"Pachygyria","primary":false},{"hpoId":"HP:0000749","label":"Paroxysmal bursts of laughter","primary":false},{"hpoId":"HP:0001763","label":"Pes planus","primary":false},{"hpoId":"HP:0002465","label":"Poor speech","primary":false},{"hpoId":"HP:0000253","label":"Progressive microcephaly","primary":false},{"hpoId":"HP:0000411","label":"Protruding ear","primary":false},{"hpoId":"HP:0000817","label":"Reduced eye contact","primary":false},{"hpoId":"HP:0012760","label":"Reduced social responsiveness","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0011344","label":"Severe global developmental delay","primary":false},{"hpoId":"HP:0010864","label":"Severe intellectual disability","primary":false},{"hpoId":"HP:0008850","label":"Severe postnatal growth retardation","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0009879","label":"Simplified gyral pattern","primary":false},{"hpoId":"HP:0002360","label":"Sleep disturbance","primary":false},{"hpoId":"HP:0001257","label":"Spasticity","primary":false},{"hpoId":"HP:0002133","label":"Status epilepticus","primary":false},{"hpoId":"HP:0012171","label":"Stereotypical hand wringing","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false},{"hpoId":"HP:0001762","label":"Talipes equinovarus","primary":false},{"hpoId":"HP:0000219","label":"Thin upper lip vermilion","primary":false},{"hpoId":"HP:0100703","label":"Tongue thrusting","primary":false},{"hpoId":"HP:0000505","label":"Visual impairment","primary":false}],"ledeHtml":"FOXG1 syndrome is a condition characterized by impaired development and structural brain abnormalities. Affected infants are small at birth, and their heads grow more slowly than normal, leading to an unusually small head size (microcephaly) by early childhood. The condition is associated with a particular pattern of brain malformations that includes a thin or underdeveloped connection between the right and left halves of the brain (a structure called the corpus callosum), reduced folds and grooves (gyri) on the surface of the brain, and a smaller than usual amount of brain tissue known as white matter.","mondoId":"MONDO:0100040","records":[{"frequencyKind":"range","key":"00efec5fa961d2d00eff0f44a0ae0703231387a6f7620aadd2a6e2681e8be455","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"040d4efbe295878c2f768ac98979cf16819124c4a70d7bbe8e7083f64b0b3a9b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"6/10","hpo_id":"HP:0030215","is_excluded":false,"label":"Inappropriate crying","onset_id":null,"reference":"PMID:21441262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"05704b34ba956a5e398244a44f71413f9342d378b2d15bdeb6de3f250c3010eb","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0100703","is_excluded":false,"label":"Tongue thrusting","onset_id":null,"reference":"OMIM:613454","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"09a7ef02c915481dfd6c62b9742d0773959c738cf3f4c0985965b737be30e86c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001274","is_excluded":false,"label":"Agenesis of corpus callosum","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0af5a3cc43ac65ba587db995f5b7cbc41a9fe2ba556d77649f9929fca58335ab","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002069","is_excluded":false,"label":"Bilateral tonic-clonic seizure","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"0c468a3bf74c901e5e703df0e029228dcefb57b07b4ac84bea32f1251c6a1b68","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"14/14","hpo_id":"HP:0031936","is_excluded":false,"label":"Delayed ability to walk","onset_id":null,"reference":"PMID:21441262;PMID:28851325","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0f89e4121616ba405c7b51841939a49287f1c3f15116b9da5720bd49b387a8bf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"11/11","hpo_id":"HP:0001344","is_excluded":false,"label":"Absent speech","onset_id":null,"reference":"PMID:21441262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"12e8bb17aaac694972d2b92b1a8503d5673cd736a1208df53f5500ad7953bdd3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002079","is_excluded":false,"label":"Hypoplasia of the corpus callosum","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"15b7b2dbc457545e2c8fa2da41aa6d5dfbce9c9778d7089c772dea7cd5cb2853","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002376","is_excluded":false,"label":"Developmental regression","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"15fd36ee3aeb8f50e4f130700bc71837f79b0dab45146a2fa5de873550f1013e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0002188","is_excluded":false,"label":"Delayed CNS myelination","onset_id":null,"reference":"PMID:28851325","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"18af6bdb741423e6d6ea3ceece7cdc734a0a265f42a5f2712c2e3fb3f1cae4ca","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002795","is_excluded":false,"label":"Abnormal respiratory system physiology","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1d6ae80c4c7f33bb47400055a32e17575602075b9b3de3bb8c6e7d52ec58fb3b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012760","is_excluded":false,"label":"Reduced social responsiveness","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"2013712adc2460df9ed8ae42692f731157f99c19403a078c49ce344114bc37ab","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"9/12","hpo_id":"HP:0000733","is_excluded":false,"label":"Motor stereotypy","onset_id":null,"reference":"PMID:21441262;PMID:28851325","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"20b6e3cd52a9718ac5efdc02bbd06b1bfc1607009a3ecd1c4a73ff14d67d2b78","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"OMIM:613454","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"22d10abad87d21b5a968c5bd731ab176010654813b33a4870f65ab4c5c648312","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000817","is_excluded":false,"label":"Reduced eye contact","onset_id":null,"reference":"OMIM:613454","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"264617e9699067d11772f640ab2fcbf2ec3c41134ed901912a62e2bd8f71059f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0030215","is_excluded":false,"label":"Inappropriate crying","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"26acbb411317ffd71b2083ca8d06b47574e8afe014a0ec5c61b409773772ebbf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002133","is_excluded":false,"label":"Status epilepticus","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"271d7fe6930df0cb83ffebc3c731366d8b038dbeab4345440bd03ef09f54c738","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"11/14","hpo_id":"HP:0002376","is_excluded":false,"label":"Developmental regression","onset_id":null,"reference":"PMID:21441262;PMID:28851325","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2904841ca688d10728ce6d9d9324e2eb808191800ae10ac863d792ca30972c67","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008850","is_excluded":false,"label":"Severe postnatal growth retardation","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"303314994382c204672ab3a2b7fabd655c25a24fe4ee9b4c92e49a3d00cbe5fe","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"305b87e8a567fa66589a1edd90e406d0cb3f23f5b80e801943210cdd64aff5b2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012469","is_excluded":false,"label":"Infantile spasms","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"31ece3dac564b65c6acc200faac8f37e0ceda21f79fda97e541f21be80ac85bd","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000253","is_excluded":false,"label":"Progressive microcephaly","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"33eda667595ca7fee98212dfbafda15e5285244c0388921cb24a21577baa39db","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004325","is_excluded":false,"label":"Decreased body weight","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"388f42f25df6625c4454c189ae29ea7ef81c44690c191b77cb7bf41043e9c82e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0100660","is_excluded":false,"label":"Dyskinesia","onset_id":null,"reference":"PMID:21441262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"39ab6be4e9ba3a3d41497f7dfbd990eda954a5214319c48d655ae13fab519ef2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0007359","is_excluded":false,"label":"Focal-onset seizure","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3ddfd8a3e745975c7ce0dcde6c0cda9c4a5026152567ff5f8f0ca61d401b4368","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0002360","is_excluded":false,"label":"Sleep disturbance","onset_id":null,"reference":"PMID:28851325","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"41067182edee9aecde938e6a5ac11339a973db65feb1ddeef2ecb825aacb2a11","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002808","is_excluded":false,"label":"Kyphosis","onset_id":null,"reference":"OMIM:613454","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"4226b711dd24ac9f4e4852c68d9d17146cd029a1531533c1f49b0bfd5348d4fd","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000414","is_excluded":false,"label":"Bulbous nose","onset_id":null,"reference":"PMID:21441262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"45d060186cd05fb496f4cc1bbe5bca7bd8a59358717b3647f99a6557955fa55b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001266","is_excluded":false,"label":"Choreoathetosis","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"48545266b73674c3f1d6d1ff508ea386444e8d5ac420abd475b30e6d06d7955f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002465","is_excluded":false,"label":"Poor speech","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"48f5066464a9de8efd0564772d16bd3a3e711f258f745b127fd3864b95eebac6","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000505","is_excluded":false,"label":"Visual impairment","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4d6510aeb88ad94a8331c044ff29d0211ab1fd4b1bdffa914db336739106dd7b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"OMIM:613454","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"5200b6e344cda9d5bdba3436e07a5a6e267863d4332f094bcba6f0034cf7279b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012448","is_excluded":false,"label":"Delayed myelination","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"527e3731e8fd01546289519d0024d260da5329df28d20338e76b202994ec73df","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002020","is_excluded":false,"label":"Gastroesophageal reflux","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"54ab483e661e22978bbe74c36c3d32de4436848a666fd2ac7b74b4ff6b9f7dac","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003781","is_excluded":false,"label":"Excessive salivation","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"57cdb74fadeb7fbc325535510b72c7a94ad117e0d3eeddff155f6396ca3e9f4b","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"12/15","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"PMID:21441262;PMID:28851325","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"582eea7e4d95723a8ed406e33758aa86c788e45b0b0bed508f48132af77b4739","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001319","is_excluded":false,"label":"Neonatal hypotonia","onset_id":null,"reference":"OMIM:613454","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"58466f99c18e01e82683ed3f43e24e92b66e85d75c8809e8dffa1c06e34f5175","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"15/15","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:21441262;PMID:28851325","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"59a0817e2cdc72c1b8f6d8e857f011b24d511f6526dff25666491b978211b91c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002305","is_excluded":false,"label":"Athetosis","onset_id":null,"reference":"OMIM:613454","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"59ba3a17e37f3fcb11be5335b4172a06a47ada8af3f526a047b8c2794ecc4045","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"PMID:28851325","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5ce8d1cdb82c99624c0e94634d8c043804f241cc13feee00d05f055e955837b6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002540","is_excluded":false,"label":"Inability to walk","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"63a5aaa6ef63f3d242055b4fe69e66bae64df964cb0b96a240984e894d07d355","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"14/14","hpo_id":"HP:0025336","is_excluded":false,"label":"Delayed ability to sit","onset_id":null,"reference":"PMID:21441262;PMID:28851325","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6ae82e51e3f4ca4f1d5e0942486ac6884429783cb8354d174bd537182bc5a6ec","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"5/10","hpo_id":"HP:0000737","is_excluded":false,"label":"Irritability","onset_id":null,"reference":"PMID:21441262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6ba45933054f8daeb6ba88e9d6a33a5209c90cb4c24a22af431a179ee278b78a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002487","is_excluded":false,"label":"Hyperkinetic movements","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"70aac88171075d8f63128aeb0e2cf6a728df3495308c113ed1efa68022c51d2a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"722175dae369934a3e5b721fabb3e536fc2b7d00a0121d803a9e8629a38f855b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0002353","is_excluded":false,"label":"EEG abnormality","onset_id":null,"reference":"PMID:28851325","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"768771a7cfd11d810a416b48e44c87e46beec88959c72bb9c17908cbe174ee10","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000411","is_excluded":false,"label":"Protruding ear","onset_id":null,"reference":"PMID:21441262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"800e7b5a0fd6c5f810c71c6061bf7aae13e4ea76225205ad7d685c8540b2ed16","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"10/10","hpo_id":"HP:0001290","is_excluded":false,"label":"Generalized hypotonia","onset_id":null,"reference":"PMID:21441262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"87da31b08cac0e0d7b1235990f94da44b37e6ffa4dddcab54bba44cc69e25f23","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002751","is_excluded":false,"label":"Kyphoscoliosis","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8874c5fe5589dee51c6b085a2f92670af4f975eebebae18320a1a308762d11f2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"9/9","hpo_id":"HP:0000253","is_excluded":false,"label":"Progressive microcephaly","onset_id":null,"reference":"PMID:21441262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"8a195950c32f403b2bcc9e12fdc4dad68604fec544d7f729f9d3b47853408ec5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001762","is_excluded":false,"label":"Talipes equinovarus","onset_id":null,"reference":"OMIM:613454","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8b9c27a032b42e69d644b848dcc82dd6c632f372bfc123ff60f93a2d62750ca1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002310","is_excluded":false,"label":"Orofacial dyskinesia","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8d28502bced5b67e2cffb97f224faffe7016fcc4fb0f8c6056e33ad17989cba0","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002307","is_excluded":false,"label":"Drooling","onset_id":null,"reference":"OMIM:613454","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8f015a2d7fec2aa9d773f31ab497876be8e3207d5aac91d6895ff344fad147e5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011344","is_excluded":false,"label":"Severe global developmental delay","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"90fc3d7530192308f02c7cfc5d5fd64dedb53d46d8cd55ef0b690eb52b0d44e8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"13/15","hpo_id":"HP:0002079","is_excluded":false,"label":"Hypoplasia of the corpus callosum","onset_id":null,"reference":"PMID:21441262;PMID:28851325","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"928c52fe916c5867e1605a9c0a7a08915a8815859281c833f6d1d48c42920cfe","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001763","is_excluded":false,"label":"Pes planus","onset_id":null,"reference":"OMIM:613454","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"98cb8cd34cc81f187d0ab851bcce5a44eb34771f88cd26c690723fccc166a862","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001302","is_excluded":false,"label":"Pachygyria","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"994e0fca2e7f57ea252e7c887914620a03e8dbf7bfb60c5c3185b37827f0027e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001288","is_excluded":false,"label":"Gait disturbance","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"9983f28d455c48bcd1c0158ffaf8e943a363ef09331b3e3541a453b885290590","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0011800","is_excluded":false,"label":"Midface retrusion","onset_id":null,"reference":"PMID:21441262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"9db96d680c76f413057c97ca8ab4c90018af6aa7dde8c254338fc7ad846b9a28","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000749","is_excluded":false,"label":"Paroxysmal bursts of laughter","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9dbddcc469132f1baf5f3d80455ffb5f431c31d8c4693387784bf6ed79153414","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001336","is_excluded":false,"label":"Myoclonus","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9f1f92d49d4504f44d71e8575bc9c274eb681efed06f1546580abe95e9d00d1c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100660","is_excluded":false,"label":"Dyskinesia","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a196bd8ec1cfd0486d03a0d5d66822a8276a13af34d289bd7b4773d5861e7461","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"10/10","hpo_id":"HP:0012760","is_excluded":false,"label":"Reduced social responsiveness","onset_id":null,"reference":"PMID:21441262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a2dd4490c9801a9b08831f6af05a6cc7060476bd6d009c60db9cc1ed86b28fe4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"7/9","hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"PMID:21441262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a4487a08dd511222cf4d169ea712a376a968ead81a5f7db317a559af8a7abeaf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"8/12","hpo_id":"HP:0003763","is_excluded":false,"label":"Bruxism","onset_id":null,"reference":"PMID:21441262;PMID:28851325","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a650e6c0896e7f450547cf750a43cbd298d62f24606f65fe135744eb7c43ac87","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"11/11","hpo_id":"HP:0009879","is_excluded":false,"label":"Simplified gyral pattern","onset_id":null,"reference":"PMID:21441262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ac013d638b0c3e00e96081cb3a26d2ae3162639f6f7780bbd308ef1a01a1e183","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000817","is_excluded":false,"label":"Reduced eye contact","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"add390fdeabc9765ca6177cb23d8788a132fdc5020ce8cc836143ebca6fe70b2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100022","is_excluded":false,"label":"Abnormality of movement","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b40164febb77f168bb7a0d64dbe87e59c759f6510773f14cf0917f77dfbd1afe","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000733","is_excluded":false,"label":"Motor stereotypy","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b5110ceabd4bcd159506f59cacb3b38e4889319ef9a0600f377be67d130ea871","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002186","is_excluded":false,"label":"Apraxia","onset_id":null,"reference":"OMIM:613454","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"bc69b78470502f49f1776410f2cfd14808767169d1fda39048bb96a0254248b6","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bddd9d739b30cd43cc98c4c0990f0672de10c6de7c45cf133a9b902c18fdcbe4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001344","is_excluded":false,"label":"Absent speech","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"be1bb39b48d133b30566964b7770050cc86b5b1bab95a9b248101df69e772ed5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0007333","is_excluded":false,"label":"Hypoplasia of the frontal lobes","onset_id":null,"reference":"PMID:28851325","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"be210d9544b6a446fc21ae8a4cee3f72b7d4a63c6218d0efaff6c419b7925a10","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c3a2efdd5717ccf7f26bc18ddb17286907b14d8fd421cdfc79a27666af962fd0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"8/10","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"PMID:21441262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c5ca1059267768db624a7bdae937290844a22fb1a99b63112827825b5a277a36","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c97150da822c280efc86e4fb6334eb867ab73c7b204b9bc43863f871e61be2d0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002360","is_excluded":false,"label":"Sleep disturbance","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cb291f3021b9129bc7f3abbfaa5d97bf3a8c2f0068ce3f2b657157d60f30ab9c","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007766","is_excluded":false,"label":"Optic disc hypoplasia","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"cbf0f433090516be8042bc4575ea03e07d71fb56f86846334e19abc5811ecc62","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"3/11","hpo_id":"HP:0001302","is_excluded":false,"label":"Pachygyria","onset_id":null,"reference":"PMID:21441262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"cddcef3adc2406d900b86f9cd05c03e30e819f404ea2daaece7a654475c42011","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"11/11","hpo_id":"HP:0010864","is_excluded":false,"label":"Severe intellectual disability","onset_id":null,"reference":"PMID:21441262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d593d2964a2ef2983c1cf2f35f354c68341df4b916487debc03eabea3c26692b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0007359","is_excluded":false,"label":"Focal-onset seizure","onset_id":null,"reference":"PMID:28851325","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d8b4b43947776b41c8e36acd31d6975156fce35983bb74f199cd24d56417d66f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000729","is_excluded":false,"label":"Autistic behavior","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d92e6785b62a4bc8f927c8d07fa7a7da2fd329881ca0214367043e731b862332","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"OMIM:613454","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"dd27a2d2de95e44eb248780a5eab47e411f90bfa909755e9c6707c3bbe47fe7e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0012171","is_excluded":false,"label":"Stereotypical hand wringing","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"dd6d405e2c7cc8131fb6d140c0d9899e94dc676e72286338f5349f9b68ca5e2a","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e07cd3ff822a0082ed3743035a3c52668af82546ca0bd0334f3b752825f08c4e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100543","is_excluded":false,"label":"Cognitive impairment","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e0efdceb4234dad23971687ae30130a5d8e5b714fdb204c2c4954e5c3fe9b8ff","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003763","is_excluded":false,"label":"Bruxism","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e428c9236b1c374b91787a5e5b5bed936dce3ec146996476121197cddc7ab7f5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e6c14513d2b5c2aae8de45996da2e6a18e98f5f3c28bc757d92591d8a468baf5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001273","is_excluded":false,"label":"Abnormal corpus callosum morphology","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f01a9d33bc699e3074342f30f6a6e397d8f1bfbce00eea6e353dc7d965b0b14e","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"9/10","hpo_id":"HP:0002020","is_excluded":false,"label":"Gastroesophageal reflux","onset_id":null,"reference":"PMID:21441262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f0398546b510ea02a4b7db5c436761c0c0f979b6c136b388a48aa9d7e6a19600","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"PMID:21441262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f251224bf2a490fb0adc1b914e2ef56b7633503bfd7023de37f1e1af7d4db48f","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:561854","disease_name":"FOXG1 syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002019","is_excluded":false,"label":"Constipation","onset_id":null,"reference":"ORPHA:561854","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f2a1ae64ee5a6a3c2d9ba71edf18dc18233a940611ca4cad92300febe1439511","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000219","is_excluded":false,"label":"Thin upper lip vermilion","onset_id":null,"reference":"PMID:21441262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f384a35e4f8787379b32249d8c3479bd05a015b7559cdf170345bdb712523eec","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002072","is_excluded":false,"label":"Chorea","onset_id":null,"reference":"OMIM:613454","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"f5cfebd645f9686cce9dcf393ffce0f809732e931287724f10cbeb61cc4161fb","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"6/10","hpo_id":"HP:0002835","is_excluded":false,"label":"Aspiration","onset_id":null,"reference":"PMID:21441262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"fca3feac04f14b4eb34bbbe1ee6c585d38d9f084476c3ea9e72ac39632f5d0b7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"PMID:28851325","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"fd38cb7e5cb00f0dcd8a949d2c4308b8ca3d554872fb37a126efaaf56e445e42","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:613454","disease_name":"Rett syndrome, congenital variant","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002019","is_excluded":false,"label":"Constipation","onset_id":null,"reference":"OMIM:613454","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

As its name suggests, FOXG1 syndrome is caused by changes involving the FOXG1 gene. This gene provides instructions for making a protein called forkhead box G1. This protein plays an important role in brain development before birth, particularly in a region of the embryonic brain known as the telencephalon. The telencephalon ultimately develops into several critical structures, including the the largest part of the brain (the cerebrum), which controls most voluntary activity, language, sensory perception, learning, and memory.

In some cases, FOXG1 syndrome is caused by mutations within the FOXG1 gene itself. In others, the condition results from a deletion of genetic material from a region of the long (q) arm of chromosome 14 that includes the FOXG1 gene. All of these genetic changes prevent the production of forkhead box G1 or impair the protein's function. A shortage of functional forkhead box G1 disrupts normal brain development starting before birth, which appears to underlie the structural brain abnormalities and severe developmental problems characteristic of FOXG1 syndrome.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes FOXG1 syndrome?"},{"bodyHtml":"

FOXG1 syndrome affects most aspects of development, and children with the condition typically have severe intellectual disability. Abnormal or involuntary movements, such as jerking movements of the arms and legs and repeated hand motions, are common, and most affected children do not learn to sit or walk without assistance. Babies and young children with FOXG1 syndrome often have feeding problems, sleep disturbances, seizures, irritability, and excessive crying. Affected individuals may have autism spectrum disorder, which is characterized by limited communication and social interaction, including poor eye contact and a near absence of speech and language skills.

FOXG1 syndrome was previously described as a congenital variant of Rett syndrome, which is a similar disorder of brain development. Both disorders are characterized by impaired development, intellectual disability, and problems with communication and language. However, Rett syndrome is diagnosed almost exclusively in females, while FOXG1 syndrome affects both males and females. Rett syndrome also involves a period of apparently normal early development that does not occur in FOXG1 syndrome. Because of these differences, physicians and researchers now usually consider FOXG1 syndrome to be distinct from Rett syndrome.

Source: MedlinePlus Genetics

","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"foxg1-syndrome","sourceDocuments":[{"name":"FOXG1 syndrome","reviewed":"2013-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:34.314851+00:00","label":"Causes","pageSha256":"e514241023005c94ee72bd9ec86c9592c1d8f5feeb097d39da6b27139dfad2ec","sourceUrl":"https://medlineplus.gov/genetics/condition/foxg1-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/foxg1-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":"FOXG1 syndrome"},"schemaVersion":1}