{"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:0011365/OMIM:603736","label":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","mondoId":"MONDO:0011365","onsetQualifier":null,"recordKeys":["01449ea2cce06d8c87b8d4d87ae349de4a49a48f64f085edf62823b6a6a14350","16d4d8fcd94f3909ce070bf43b5777db3e713cbb5d945a68a9b3ed457981a0d5","3550e7502e1651423198029b5dd92c5b729f27bfcc231130d26eed4fbb3df750","3ced6d2c8dce4fc13bbe99a5360862115d70757aa9dc3a2efb8131d32c740e12","5054f6d7836f267234951e1d1c66525f36514352c7872d983f2b1f07c29ed146","5561565d89d61d1de17fb67149b0347604062706fca01bd5b17d1ff3421236ff","62f674a7064ef12cfda635ad9981b64e4b77f4daa6a2a904c637258eb0401794","6c9342ccffffe9ceb19c7bd5e31375a7686935a79e06a91acb102eea5e84c7da","6e54bd312ea26a9b342a75d0cccced637b9728f94cbcbbd2d97ed8a4a37f0248","747940e402cd91dabb108b2d74e6aff88f664c13e8e25161fd492af9d344ffb4","772cf3765904e552fda5d1c0ce242e937693f37ca9144d86b6eb3dcc8c7b8304","8753440fa2ee01f5fb07ace4130d526670d88a4058e8e983a3a2663ee955e73b","8aba187d42fd4ac1faa32168f3ee53bb70e5cc7c2f2a89551a40d488a30d1cdd","8c3e47e836b8ad5a7556b390d5c680b5ee42e24df9db096c7c796df54677a3cd","a30c11ff93fba3e7b25b9b676149eff2958fa748245de9c90fc1d9bf784d7ffe","bffd08a6201440cf75fae618922c49485fa6b1d429705b132acf4c76a7dcacec","cb0a3293fb3a7ad1c869ab7e0a7a1103f2a5a720ef54fd11d5a83443831229ce","d260a3c6ab28d9da9813db93f2d42f481614b4cd4654e42f795deaa456ab872a","d73dc8894d2a245ef2476c6186d0998e7c6651d65d4109f55d941671abace102","dc78333ce1326cc506e2477c4976478eb3574873e58feff0d4cb81fc17246baa","e2620dddf25136a008c00b6c5bae384d16b33a8e06135dd77cc5b40ea5d4f99a","e2f0b9fe33b66566e09ca649fe6d6842837abdbb4641b9b3c5abf422d71829b2","ec126c30dbb46cb2b35e623c88f05b46bbe0db815877227f3216274b83a633d1","f164d00ba9eca14c14cbb3c077f2168b1c3206bfa4432effc4818fce57bfad40"],"recordQualifiers":{},"scopeLabel":"OMIM:603736","sourceIds":["OMIM:603736"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0011365/ORPHA:3047","label":"Blepharophimosis-intellectual disability syndrome, SBBYS type","mondoId":"MONDO:0011365","onsetQualifier":null,"recordKeys":["0e71d30e66e7de32b4e4de14cf5059d01c7d192ecf0300a59f600a879e332836","20416a4dec6d5654a1c5cc09230e8bcc8f6013a607dbd6a32f642cf59c909409","30e46078ab4fc1342e29df58e523193eb1c9cb77dbf4eba92347078026009cb3","452bcca99f3a9edda3298e6fc560941d1e215c2d1f7ff6d7efa09cd4cf07fece","4721cb847fe50f92f63fe5d1dd0369c8d00df1ad883a2fc3a4ee9b429f64ba20","4bc4a6b5667148cb8ef4450946d8670d99608a54bf9ed94a1df61992cca39a98","4c09a397902146cf9519767506dd7440047221c9fc5e06795cb8e81b8e28c3ab","514eb041525ab6217ab903ff9d6ba38251fa7a3fb16544ec822b65640e3af036","5a93178be9254c0cd0ac0c74c80a50f19806871dc0f16b8497f718ee36eb48ff","5be3b1cd48653e35451385a6773a2cc7c8122c5564840e51a6b21be24af05869","5dfbf3494a514a3ba2f1f17413ceae92957b366b5d582280066c2da93add2be6","5f4946c90f7bd16996f3a66c25cb59107e05c5f2d0886fef4be61600c410beaa","6186ed687fc683f3d80bc3e5657ebe8b1fbf119b141bbf11599f53feeb7bf44e","624f8106f7cd36436571a606a13f2882d40a747b7c89dbe36d4da2d73c2bdc14","68b899c8f30a0220a820ceb800d5f615d03a7e4b1f0ad1f4bcf82f907e85008f","6987fe5b5e04e1f5ada2831924d92a9d21cb77deac45aae052433267d1e0bdd8","8bc439dcc8f8c842b772d3cf6eb586f65f99ee9e95093d090362ab9757304c89","8d2d09ccb45f8048afe58bca93b29f7e6f4f56e252e9c56f0ca87ee275bc4b76","8f4625b2cacf7c3ddc27dcd5a6f6e870fbc7f35c6cc92bd57a8f4d267ef18607","90ff305d20a045b6adf343fde12d0ba552483fa2eb7948e2f2bbad2ca7f5efa5","9507ec388b2665a38623285be8f17a9e0347f9842d219b7bf4453f7637d2506d","999e877a770b5d9ce797a1438d8679be57208d239e899cedd0b987a6fc4b1df7","9d5634382526e1e009e35a8a62a9fdfcdd83075ab94fa3bbde7a3598e119488c","a5b7fd22773fb3634bac01299cdeda2e78c39a949ec4e2835c250484a29f2145","a714f2832efc460810b7a2a7fa38950693640fe2b9c937605deb7829c61c2719","a7e898eb135cd04cb2af8a45960c4d266c361e34ecefee9806a96579e0cfdb29","aaa256bddd93e2731debe059b3e9a3dc7aca237f54bba409f4ea3a69540ea9f3","addeb3ba1e6a9821bbe292ea2a93e51667ef05e3cac7ff3a8fbaebb5c6780c34","aee19399fe855d22bad3247f113e725ae8ad7c17fa8406a629528f0ead6afc50","b524ac51692358e0c5d8ba00a17574c208ef1b7811186e9368585696cfed1d14","b8e850e96047698393c6d8e2e52d3a45e0db2ec06dd1ef6ac1d2a1ebb690a4e3","bc0993e36797e05ad7caf0971fd5be10c60984101c25439fb3140170616c0d0a","c01a33adf02d291f5f59f0e92d1e53958b90284efba891e16c181e6b31f3cbb1","c92fff829e331d201d3b02877d5f1c784e2aabd2b6f33ab951f7ab425e672860","cbc3cee9703c5af19122c0092ee26bc6301dc49218dbf5064d4269f43349108e","d7b093c644217530629a2ee83ac8584715b72569ccff3eb62afeca912cc0e45d","d9cf40a1999b8dc00a1f75d23379f9b53fa89f1ece8bb8c40d3e49241123688d","e0cda283679c5c86cf2fadadc844161d29ea012fd002ce5ca0fa60e812c994f6","e5c7ed1ea2cfb7f99156dfbba582fdd94e52e409fe8bd8c256215f0fe81c546c","e6c5811cc4649d40f26efec454fab4444b48b30cea4004414a0ffbabe178555d","ef239fc8f43728175c65ca8156e9d60ec9cc5d1a289ab7dde2b2c2622e1cddd9","f275eeb441acda79410032250ff045cf528a74a7181244f4a68bfb60cfd38481","f59f3a3ba4c84619088440161666d2c38db7eae5f21305b65d264a40914d167a"],"recordQualifiers":{},"scopeLabel":"ORPHA:3047","sourceIds":["ORPHA:3047"],"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:0011365/OMIM:603736","MONDO:0011365/ORPHA:3047"],"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":9,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":67,"sourceGroups":{"omim":8,"orphanet":43,"published":16}},"features":[{"hpoId":"HP:0009738","label":"Abnormal antihelix morphology","primary":false},{"hpoId":"HP:0004426","label":"Abnormal cheek morphology","primary":false},{"hpoId":"HP:0000614","label":"Abnormal nasolacrimal system morphology","primary":false},{"hpoId":"HP:0001631","label":"Atrial septal defect","primary":false},{"hpoId":"HP:0006695","label":"Atrioventricular canal defect","primary":false},{"hpoId":"HP:0000193","label":"Bifid uvula","primary":false},{"hpoId":"HP:0007598","label":"Bilateral single transverse palmar creases","primary":false},{"hpoId":"HP:0000581","label":"Blepharophimosis","primary":false},{"hpoId":"HP:0000414","label":"Bulbous nose","primary":false},{"hpoId":"HP:0100490","label":"Camptodactyly of finger","primary":false},{"hpoId":"HP:0000175","label":"Cleft palate","primary":false},{"hpoId":"HP:0004209","label":"Clinodactyly of the 5th finger","primary":false},{"hpoId":"HP:0000028","label":"Cryptorchidism","primary":false},{"hpoId":"HP:0005280","label":"Depressed nasal bridge","primary":false},{"hpoId":"HP:0001644","label":"Dilated cardiomyopathy","primary":false},{"hpoId":"HP:0100028","label":"Ectopic thyroid","primary":false},{"hpoId":"HP:0000537","label":"Epicanthus inversus","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0011968","label":"Feeding difficulties","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0001510","label":"Growth delay","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0000047","label":"Hypospadias","primary":false},{"hpoId":"HP:0000821","label":"Hypothyroidism","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0001382","label":"Joint hypermobility","primary":false},{"hpoId":"HP:0001847","label":"Long hallux","primary":false},{"hpoId":"HP:0003189","label":"Long nose","primary":false},{"hpoId":"HP:0032524","label":"Long thumb","primary":false},{"hpoId":"HP:0000369","label":"Low-set ears","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0000691","label":"Microdontia","primary":false},{"hpoId":"HP:0000347","label":"Micrognathia","primary":false},{"hpoId":"HP:0001270","label":"Motor delay","primary":false},{"hpoId":"HP:0100648","label":"Neoplasm of the tongue","primary":false},{"hpoId":"HP:0002999","label":"Patellar dislocation","primary":false},{"hpoId":"HP:0001643","label":"Patent ductus arteriosus","primary":false},{"hpoId":"HP:0001561","label":"Polyhydramnios","primary":false},{"hpoId":"HP:0000358","label":"Posteriorly rotated ears","primary":false},{"hpoId":"HP:0000448","label":"Prominent nose","primary":false},{"hpoId":"HP:0000269","label":"Prominent occiput","primary":false},{"hpoId":"HP:0002205","label":"Recurrent respiratory infections","primary":false},{"hpoId":"HP:0000278","label":"Retrognathia","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0010864","label":"Severe intellectual disability","primary":false},{"hpoId":"HP:0003510","label":"Severe short stature","primary":false},{"hpoId":"HP:0012745","label":"Short palpebral fissure","primary":false},{"hpoId":"HP:0000340","label":"Sloping forehead","primary":false},{"hpoId":"HP:0001328","label":"Specific learning disability","primary":false},{"hpoId":"HP:0000176","label":"Submucous cleft hard palate","primary":false},{"hpoId":"HP:0000219","label":"Thin upper lip vermilion","primary":false},{"hpoId":"HP:0008191","label":"Thyroid agenesis","primary":false},{"hpoId":"HP:0008188","label":"Thyroid dysgenesis","primary":false},{"hpoId":"HP:0005990","label":"Thyroid hypoplasia","primary":false},{"hpoId":"HP:0001629","label":"Ventricular septal defect","primary":false}],"ledeHtml":"The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body.","mondoId":"MONDO:0011365","records":[{"frequencyKind":"reported","key":"01449ea2cce06d8c87b8d4d87ae349de4a49a48f64f085edf62823b6a6a14350","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002999","is_excluded":false,"label":"Patellar dislocation","onset_id":null,"reference":"PMID:22077973","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"0e71d30e66e7de32b4e4de14cf5059d01c7d192ecf0300a59f600a879e332836","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000358","is_excluded":false,"label":"Posteriorly rotated ears","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"16d4d8fcd94f3909ce070bf43b5777db3e713cbb5d945a68a9b3ed457981a0d5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"PMID:22077973","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"20416a4dec6d5654a1c5cc09230e8bcc8f6013a607dbd6a32f642cf59c909409","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001629","is_excluded":false,"label":"Ventricular septal defect","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"30e46078ab4fc1342e29df58e523193eb1c9cb77dbf4eba92347078026009cb3","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008188","is_excluded":false,"label":"Thyroid dysgenesis","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3550e7502e1651423198029b5dd92c5b729f27bfcc231130d26eed4fbb3df750","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"PCS","frequency_raw":"10/19","hpo_id":"HP:0032524","is_excluded":false,"label":"Long thumb","onset_id":null,"reference":"PMID:22077973","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"3ced6d2c8dce4fc13bbe99a5360862115d70757aa9dc3a2efb8131d32c740e12","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"OMIM:603736","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"452bcca99f3a9edda3298e6fc560941d1e215c2d1f7ff6d7efa09cd4cf07fece","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4721cb847fe50f92f63fe5d1dd0369c8d00df1ad883a2fc3a4ee9b429f64ba20","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001328","is_excluded":false,"label":"Specific learning disability","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4bc4a6b5667148cb8ef4450946d8670d99608a54bf9ed94a1df61992cca39a98","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0006695","is_excluded":false,"label":"Atrioventricular canal defect","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4c09a397902146cf9519767506dd7440047221c9fc5e06795cb8e81b8e28c3ab","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100490","is_excluded":false,"label":"Camptodactyly of finger","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5054f6d7836f267234951e1d1c66525f36514352c7872d983f2b1f07c29ed146","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"OMIM:603736","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"514eb041525ab6217ab903ff9d6ba38251fa7a3fb16544ec822b65640e3af036","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0007598","is_excluded":false,"label":"Bilateral single transverse palmar creases","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5561565d89d61d1de17fb67149b0347604062706fca01bd5b17d1ff3421236ff","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000691","is_excluded":false,"label":"Microdontia","onset_id":null,"reference":"PMID:22077973","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5a93178be9254c0cd0ac0c74c80a50f19806871dc0f16b8497f718ee36eb48ff","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000414","is_excluded":false,"label":"Bulbous nose","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5be3b1cd48653e35451385a6773a2cc7c8122c5564840e51a6b21be24af05869","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000176","is_excluded":false,"label":"Submucous cleft hard palate","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5dfbf3494a514a3ba2f1f17413ceae92957b366b5d582280066c2da93add2be6","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000821","is_excluded":false,"label":"Hypothyroidism","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5f4946c90f7bd16996f3a66c25cb59107e05c5f2d0886fef4be61600c410beaa","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004209","is_excluded":false,"label":"Clinodactyly of the 5th finger","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6186ed687fc683f3d80bc3e5657ebe8b1fbf119b141bbf11599f53feeb7bf44e","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"624f8106f7cd36436571a606a13f2882d40a747b7c89dbe36d4da2d73c2bdc14","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000448","is_excluded":false,"label":"Prominent nose","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"62f674a7064ef12cfda635ad9981b64e4b77f4daa6a2a904c637258eb0401794","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000537","is_excluded":false,"label":"Epicanthus inversus","onset_id":null,"reference":"OMIM:603736","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"68b899c8f30a0220a820ceb800d5f615d03a7e4b1f0ad1f4bcf82f907e85008f","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6987fe5b5e04e1f5ada2831924d92a9d21cb77deac45aae052433267d1e0bdd8","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100648","is_excluded":false,"label":"Neoplasm of the tongue","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"6c9342ccffffe9ceb19c7bd5e31375a7686935a79e06a91acb102eea5e84c7da","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000358","is_excluded":false,"label":"Posteriorly rotated ears","onset_id":null,"reference":"OMIM:603736","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"6e54bd312ea26a9b342a75d0cccced637b9728f94cbcbbd2d97ed8a4a37f0248","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"PCS","frequency_raw":"18/19","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"PMID:22077973","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"747940e402cd91dabb108b2d74e6aff88f664c13e8e25161fd492af9d344ffb4","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"OMIM:603736","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"772cf3765904e552fda5d1c0ce242e937693f37ca9144d86b6eb3dcc8c7b8304","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"PCS","frequency_raw":"8/9","hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"PMID:22077973","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"8753440fa2ee01f5fb07ace4130d526670d88a4058e8e983a3a2663ee955e73b","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001644","is_excluded":false,"label":"Dilated cardiomyopathy","onset_id":null,"reference":"OMIM:603736","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8aba187d42fd4ac1faa32168f3ee53bb70e5cc7c2f2a89551a40d488a30d1cdd","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000581","is_excluded":false,"label":"Blepharophimosis","onset_id":null,"reference":"PMID:22077973","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8bc439dcc8f8c842b772d3cf6eb586f65f99ee9e95093d090362ab9757304c89","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8c3e47e836b8ad5a7556b390d5c680b5ee42e24df9db096c7c796df54677a3cd","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"PCS","frequency_raw":"9/19","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"PMID:22077973","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8d2d09ccb45f8048afe58bca93b29f7e6f4f56e252e9c56f0ca87ee275bc4b76","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8f4625b2cacf7c3ddc27dcd5a6f6e870fbc7f35c6cc92bd57a8f4d267ef18607","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003510","is_excluded":false,"label":"Severe short stature","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"90ff305d20a045b6adf343fde12d0ba552483fa2eb7948e2f2bbad2ca7f5efa5","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0009738","is_excluded":false,"label":"Abnormal antihelix morphology","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9507ec388b2665a38623285be8f17a9e0347f9842d219b7bf4453f7637d2506d","raw":{"aspect":"P","body_system":"prenatal","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001561","is_excluded":false,"label":"Polyhydramnios","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"999e877a770b5d9ce797a1438d8679be57208d239e899cedd0b987a6fc4b1df7","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004426","is_excluded":false,"label":"Abnormal cheek morphology","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9d5634382526e1e009e35a8a62a9fdfcdd83075ab94fa3bbde7a3598e119488c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a30c11ff93fba3e7b25b9b676149eff2958fa748245de9c90fc1d9bf784d7ffe","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"PCS","frequency_raw":"19/19","hpo_id":"HP:0010864","is_excluded":false,"label":"Severe intellectual disability","onset_id":null,"reference":"PMID:22077973","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a5b7fd22773fb3634bac01299cdeda2e78c39a949ec4e2835c250484a29f2145","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a714f2832efc460810b7a2a7fa38950693640fe2b9c937605deb7829c61c2719","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000614","is_excluded":false,"label":"Abnormal nasolacrimal system morphology","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a7e898eb135cd04cb2af8a45960c4d266c361e34ecefee9806a96579e0cfdb29","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008191","is_excluded":false,"label":"Thyroid agenesis","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"aaa256bddd93e2731debe059b3e9a3dc7aca237f54bba409f4ea3a69540ea9f3","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000340","is_excluded":false,"label":"Sloping forehead","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"addeb3ba1e6a9821bbe292ea2a93e51667ef05e3cac7ff3a8fbaebb5c6780c34","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"aee19399fe855d22bad3247f113e725ae8ad7c17fa8406a629528f0ead6afc50","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000278","is_excluded":false,"label":"Retrognathia","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b524ac51692358e0c5d8ba00a17574c208ef1b7811186e9368585696cfed1d14","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000269","is_excluded":false,"label":"Prominent occiput","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b8e850e96047698393c6d8e2e52d3a45e0db2ec06dd1ef6ac1d2a1ebb690a4e3","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001631","is_excluded":false,"label":"Atrial septal defect","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bc0993e36797e05ad7caf0971fd5be10c60984101c25439fb3140170616c0d0a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0012745","is_excluded":false,"label":"Short palpebral fissure","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"bffd08a6201440cf75fae618922c49485fa6b1d429705b132acf4c76a7dcacec","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"PCS","frequency_raw":"16/19","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"PMID:22077973","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c01a33adf02d291f5f59f0e92d1e53958b90284efba891e16c181e6b31f3cbb1","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005990","is_excluded":false,"label":"Thyroid hypoplasia","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c92fff829e331d201d3b02877d5f1c784e2aabd2b6f33ab951f7ab425e672860","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000581","is_excluded":false,"label":"Blepharophimosis","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"cb0a3293fb3a7ad1c869ab7e0a7a1103f2a5a720ef54fd11d5a83443831229ce","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"PCS","frequency_raw":"6/19","hpo_id":"HP:0000175","is_excluded":false,"label":"Cleft palate","onset_id":null,"reference":"PMID:22077973","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"cbc3cee9703c5af19122c0092ee26bc6301dc49218dbf5064d4269f43349108e","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d260a3c6ab28d9da9813db93f2d42f481614b4cd4654e42f795deaa456ab872a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"OMIM:603736","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d73dc8894d2a245ef2476c6186d0998e7c6651d65d4109f55d941671abace102","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000821","is_excluded":false,"label":"Hypothyroidism","onset_id":null,"reference":"PMID:22077973","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d7b093c644217530629a2ee83ac8584715b72569ccff3eb62afeca912cc0e45d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000193","is_excluded":false,"label":"Bifid uvula","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d9cf40a1999b8dc00a1f75d23379f9b53fa89f1ece8bb8c40d3e49241123688d","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002205","is_excluded":false,"label":"Recurrent respiratory infections","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"dc78333ce1326cc506e2477c4976478eb3574873e58feff0d4cb81fc17246baa","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000269","is_excluded":false,"label":"Prominent occiput","onset_id":null,"reference":"OMIM:603736","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e0cda283679c5c86cf2fadadc844161d29ea012fd002ce5ca0fa60e812c994f6","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001643","is_excluded":false,"label":"Patent ductus arteriosus","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e2620dddf25136a008c00b6c5bae384d16b33a8e06135dd77cc5b40ea5d4f99a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000414","is_excluded":false,"label":"Bulbous nose","onset_id":null,"reference":"PMID:22077973","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e2f0b9fe33b66566e09ca649fe6d6842837abdbb4641b9b3c5abf422d71829b2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"PCS","frequency_raw":"10/19","hpo_id":"HP:0001847","is_excluded":false,"label":"Long hallux","onset_id":null,"reference":"PMID:22077973","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"e5c7ed1ea2cfb7f99156dfbba582fdd94e52e409fe8bd8c256215f0fe81c546c","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100028","is_excluded":false,"label":"Ectopic thyroid","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e6c5811cc4649d40f26efec454fab4444b48b30cea4004414a0ffbabe178555d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003189","is_excluded":false,"label":"Long nose","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ec126c30dbb46cb2b35e623c88f05b46bbe0db815877227f3216274b83a633d1","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000219","is_excluded":false,"label":"Thin upper lip vermilion","onset_id":null,"reference":"PMID:22077973","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ef239fc8f43728175c65ca8156e9d60ec9cc5d1a289ab7dde2b2c2622e1cddd9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f164d00ba9eca14c14cbb3c077f2168b1c3206bfa4432effc4818fce57bfad40","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:603736","disease_name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","evidence":"PCS","frequency_raw":"4/10","hpo_id":"HP:0000047","is_excluded":false,"label":"Hypospadias","onset_id":null,"reference":"PMID:22077973","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f275eeb441acda79410032250ff045cf528a74a7181244f4a68bfb60cfd38481","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f59f3a3ba4c84619088440161666d2c38db7eae5f21305b65d264a40914d167a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3047","disease_name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:3047","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/ohdo-syndrome-say-barber-biesecker-young-simpson-variant\">Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>The SBBYS variant of Ohdo syndrome is caused by mutations in the KAT6B gene. This gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a small molecule called an acetyl group to histones, histone acetyltransferases control the activity of certain genes. Little is known about the function of the histone acetyltransferase produced from the KAT6B gene. It appears to regulate genes that are important for early development, including development of the skeleton and nervous system.</p><p>The mutations that cause the SBBYS variant of Ohdo syndrome likely prevent the production of functional histone acetyltransferase from one copy of the KAT6B gene in each cell. Studies suggest that the resulting shortage of this enzyme impairs the regulation of various genes during early development. However, it is unclear how these changes lead to the specific features of the condition.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/ohdo-syndrome-say-barber-biesecker-young-simpson-variant/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant?"},{"bodyHtml":"<p>Males with the SBBYS variant of Ohdo syndrome typically have undescended testes (cryptorchidism). Females with this condition have normal genitalia.</p><p>Missing or underdeveloped patellae is the most common skeletal abnormality associated with the SBBYS variant of Ohdo syndrome. Affected individuals also have joint stiffness involving the hips, knees, and ankles that can impair movement. Although joints in the lower body are stiff, joints in the arms and upper body may be unusually loose (lax). Many people with this condition have long thumbs and first (big) toes.</p><p>The SBBYS variant of Ohdo syndrome is also associated with delayed development and intellectual disability, which are often severe. Many affected infants have weak muscle tone (hypotonia) that leads to breathing and feeding difficulties.</p><p>The SBBYS variant of Ohdo syndrome is characterized by a mask-like, non-expressive face. Additionally, affected individuals may have distinctive facial features such as prominent cheeks, a broad nasal bridge or a nose with a rounded tip, a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and abnormalities of the tear (lacrimal) glands. About one-third of affected individuals are born with an opening in the roof of the mouth called a cleft palate. The SBBYS variant of Ohdo syndrome can also be associated with heart defects and dental problems.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/ohdo-syndrome-say-barber-biesecker-young-simpson-variant\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"ohdo-syndrome-say-barber-biesecker-young-simpson-variant","sourceDocuments":[{"name":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant","reviewed":"2013-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:54.923890+00:00","label":"Causes","pageSha256":"ae398cff4152e3b0cc1fe9609786e501d37e3ca7873a3cc78aa1b61de9518d41","sourceUrl":"https://medlineplus.gov/genetics/condition/ohdo-syndrome-say-barber-biesecker-young-simpson-variant/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/ohdo-syndrome-say-barber-biesecker-young-simpson-variant"}],"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":"Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant"},"schemaVersion":1}