{"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:0008800/OMIM:206920","label":"Microphthalmia with limb anomalies","mondoId":"MONDO:0008800","onsetQualifier":null,"recordKeys":["002e73526e0cf47b7546c1ab0dcc59d4a17b39818320a142066935a003514ee9","035d8176b0d39e5a524dc69e0e9c644becdba436a8f0b3c23c34403ec90d795b","12c16f2c6a9702bf9e6568a423bfaef099fe3fe097b84863b2acbb93f5c2fdb9","154d0fdd39c2878bae1b391c4a7b64508599ade046b0ebafdf71962ef1365bee","229fc0e68b1ac24f7e86f57c9df76a7dceca5d36f978be6c7696eff492bb6197","291e9632efee04dbcd0aa53135124547df4626c64af8e2dab079c1fab2b64ae9","352e97bfc4c9cb89016b551362def2874f77a5dc12eb42269ce42bdd02ef2fe1","35abca213d1f0fc624dbf8d75cfd56fa6624c18483e732fa39a3c44e9abb2bae","3d9a98f26bb99e27e5cbb464576672ffd9e4b7f4138a1a6185aa627c759556dc","4375b3fdf616a9ec56cf35c2e2fc1e2a595e24bdf82f60357244b5262a6e90eb","4a90bb8be7af48ccb007dee9a58f9dd129ff346c4bd72cdbd7dcc570d621a8fb","5444d5bb94c1bdb15ed6eafbf102f49f940423b49537ccee615ac8c212750520","68aeabcd523a3676e8b451e20fdbb9a18824733dc9591ea641f93df7b5f7b430","6abd3479018f10dc6936d123cd4ea23decbbb7e6be5760e79012f11470009f1c","6d16296c62ed2cd9b60ad1f350773a12b7d442bfb49e1d6b4ee52ea21994b6fc","6f65ec3202eedab4c38d289e1b5dc862292a270f3efd462ab7d827d13a58966f","7901f35adefde692b9d86693bacd7dcfe9fa35aad5a2d5ce4e11dc1af563b10c","79cd333683645256d8e677786cb124a57813bc171bf03081aee09ce05d803005","80a39860943bfe853c649558630e33e0901faa86bd0ad7958c651727259eff4d","888c57edab90275a5e4433d729fcdc0d708e5d8a64288cc021b6a37bd06fcf3f","8afb005efe86da6df5d46d5c56d5e07f1af0450a147ba457bb898183527925b2","8daa21310c0cffa0fde379f97b9908f345e360009e7c8f0ebfbbfe1a1c854b9f","8e1a73ef96c4e0e41bcdbf0cbe4ee0c314520f1209dbba31525042fd16d52c97","9e242d940362bdae522c18adb81a06e947b0a06f2035e0bba7b59fda66570e07","a249949a6710c18f7449abf9e2ad75f594c3caa05c1af9fb5f75385b9e8c2aaf","adc7a9bdbf80244556ca1a91c024ee00563b89b783e9b8fe5198e697579932e6","af13ee0c1ebd73a0acfcecb47bab5a1b06011c6dd63bc944f5138b9b7a52b310","b08eff76faf4533912df5e0a560163c85cac7f3644642f8bd0ca378e7c0c0753","b0b3cadbd8318f8cdf94c2587ebf292097f95156adf99020ff704a8405e9fd84","ba51af48cd9a524338cf0011551003811603f496c5a7e9cbbf983f0ae372ff68","bd1ce584c983ee38c3482915d1dfab634d2ae817a43d885d481e7ed0a723bcbc","bd273a76bf2c0d589d9a9f54ffdce6f9ce7d5ccabf45166d4e0a0d661d4c6773","c23d62b75e9401641c756aeec4e20efa683f5ee61519be5031edd9cadb8cb67c","d347b820bf6175b90af7bffbe323d4b480c5eadebcb759a520c840ea63a86bc3","d3d2d6bbc0c30d98ed2ce11421682235e9d975c0347d75dcb447443f889f1e01","d8bf5801ee2b827ed8d6ebdfe2a62906a2f3c468ec9bb5696a17181ce2ee5af3","dfd933a38ef30f0fa305f2d8ea4c83c29ea4d3b02011da261f2168ac28b455c1","e4e6fe5a4c316178393f4a35d05f4fe0e8b08ae302655a57a8c22f4a39b4dee6","e7259cdcc9f16780623eb262f8cccf67b56f5d5197bbc7e81aa4425a38eb3108","f022f2259c43235f1681c50e4675ad7401fd012e4e5f050833ccca03ee2f3e2d","f39ba6b0c818b5856adba08a202d6d7a903c4c0c4f7b0f3685f25ff7f577b02a","f48044cfade9229f3d4b5068406936075fc9858fa72bd5e3f5a37e984c7ab17d","f80798b84855b363352fec94004166618f3f7773047187a8e11e1ef51370d926","fd2c8573e22e4202fcd3d771c1cb3210402f961ebf0734cffd3508cf2e6e0d35"],"recordQualifiers":{},"scopeLabel":"OMIM:206920","sourceIds":["OMIM:206920"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0008800/ORPHA:1106","label":"Microphthalmia with limb anomalies","mondoId":"MONDO:0008800","onsetQualifier":null,"recordKeys":["0316cdd8b573cf24da29a02218ea87549df9e702544d1a5bc3b768d7fa0d156a","0425e87a595600be3993d46d3684b2b51cc2edef6f566d6573247c6b76103bd8","123c8b7b72ddb418398bc8169db307d6fc08d425b6ae1a071ac36d96c8c8df6c","1369a96087e5239af98715969c5163cbef537999c17616cb3b489106a7b3060d","14dbb57434f0db2c2b28ff16b049e28e7ee855cb68e972f61fd6ece2055530b9","1b6a07216d5ae2957f9172dde75431a7a074939519d196ce8d20998ba15db509","1fe16ba1b9ae44cb6576b010b911daf9e659327200473a8e433f00acaff07c29","28352e34406681c66aa841e2270a488be5cbe7378cd19925c077f2fa0366008e","28e4a0554c0034e839fcf0a9ab0b8dd79e9ed1685607d55e13f238a2dc42592d","2f039c3e2d4ba0ebcda89fe0ea2de496c83267326d2546966d94738d5ae1f7a3","300b19c73520f543874d44f5b785d8574dfce10c27c2104dd0250cda98e34703","34f4ddaf4f16cb6f97421fd72e7fc12a61e22b5a84467e75b2be24764937b057","3dd8088f5b38b173e16f1b5bc0a3bbdabffa7610a50a580a5c609f4b3df2d9e6","3fb5e34554095327e0c31d441d2fbac6ea2ba4e2b3cc3219351b1f2ae347ae58","44c55479072f12af894c5a5757d1695e90e134403b4144e85f2015a97c5fac3a","4606d25fa41279c997ddf3f2f66d545ca621a1af2219ca52bde93ed38c2173fa","48b3f07ef2c59f99950188703b8484e476dcf334e3f4e9e3216b41285d361e76","4a89b4364e78f2444f64c7f43cde8f58df09ee6f15a1a564cfd0822adcb3e559","50775987c6420b2f9c197b2481fc092c401bd092c473c0b5dea64355ed98322d","5406578dea4b6fcbd20e4306d9e6608c33db2e29d5ca69eb437fd58880ab72a3","55ed421246621e3b6d4873bbc31c1facb7f7ae1e122aa8369d331cd562fff533","575d8116e70ae57f375f7950de6d33f26eedc2146477b12989e0da99b15fc53a","58ec8f53688d0c3d32fd6d127c2fd0a488819bb78136824def70983927090cea","58f3dacd8400d6748182d76f5af0a7679ac622433681746c468c818feb2b9dba","59830c2a1edc218660a47593f1dc6168d2d61a10827dae769c79f3ef8d7320af","614eda541a5b0be7516f6f2b3289bc8b3484f25c335121733183c4e3fd256f2a","61697133fc5a1db86082ddaf321104bb59fd03aac35251e1a4ac74f81d8c5998","6830bfa94b7233536763d677255a6349909595568acc7ab039f1b8a38547cdd4","6d02d2a846791cb67d548ef1993d15fd3fb849593abc4b34ed8c39ffbd29579d","70366b05110521ba294316043d9cbcf63abe16d3bb5987841f9cc0782bac018c","7193baba4669becc387023c722143042758e1a5067e188993018210290efd777","7909ab05a6a8f3694767b61b74846b147e9c14f6143262aae9e3b314b643c4d9","820d4c6ff3544403d456d90d8b1baeeef26c586f63e322aba2350d2b4564473b","83660849ed61ab549fa51b81a2d36005d3f55331a34d45dfc4e744a1cd0a20ff","8e4039fd44dfd46bc6769c393d13b51254872129c98ae97b45de2749e388fd8a","914b3da044a016e4c67aa553862c8ef2b340ba06b87abdc19507f0a29fbccaf4","96ba986f71db6edb37ce0f75ca22d161da98163aeb8c93f64931c4b4fb700c07","abd9e0fb69d8bd34c82ffcc443d6ea003c33fab9c27e8645d14d02fa02206b36","b0e98850265ae445a9c2d390076a70cc18796a0782adc042728bac798714de20","b2e4d44b07e939a438c8724ea41b8e0a0f29ea3ab7ef314d0a2a154b416f365d","b2f1124c6e8430bd38e370aba39fe1c78113a2605fa32e84faa5303ca70a4063","b3da2344bc0437a9a7ba71f22a253137fde1929c58464da96f1915b3d359319a","b472520ad63f02da7f234b3373c5efc0204996ab3f7316dd1cdf6f349390109d","b885578f3d1b1b5feca04693ef12cb778727a655f4a69814043ac1108059335a","b9ae8faf18c48363517e0516635c415364b93203f2e0c45bef175bff68af63ef","da54c094e9e243fd67797ecd52f87242c7ca468350f6f201e45c2c40d47c5006","dd5b57390ba333d3544a8d1399015c965fb5c1f0b1522822300239fe42f26bfe","dee36bbeee35910b01652f368cd6b399b4d4ee33a1c4e3d4e890bf2b6d2bb994","e234860c56b5da605440d6c8000be44b5aac10eb72339699aaef7621c79f5d25","e29e6137da1e46b4aec3667974ae0c2f460b3cf03166efb9ce14295a87ced2e2","eb9f587b10cd0b34f3b84a08b21479d628a06c528857689f9c24a8be37fc50e4","ec68cb03de32d7d6412a4fb4f5cf7bda84dfb8da480534740f605afd5ffe8731","eda5cdd45b66821894f0e2fb4c0b2f703c4bcd6f49d857295e61a527acd24839","ede4e10d6e9da0a14c76ceaee45aba669e6a2cfc3332b608ea208652c24ba3a2","fbdf28a7efe20599d5f6f7d58603497fc983d56e3ab14f295dfa063c4a78c27a","fd399577ce018460e1b75240f80c21fcdbfd524ec315a106ce947a952cde4e9f"],"recordQualifiers":{},"scopeLabel":"ORPHA:1106","sourceIds":["ORPHA:1106"],"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:0008800/OMIM:206920","MONDO:0008800/ORPHA:1106"],"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":19,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":100,"sourceGroups":{"omim":25,"orphanet":56,"published":19}},"features":[{"hpoId":"HP:0005709","label":"2-3 toe cutaneous syndactyly","primary":false},{"hpoId":"HP:0010715","label":"2-5 toe syndactyly","primary":false},{"hpoId":"HP:0005867","label":"4-5 metacarpal synostosis","primary":false},{"hpoId":"HP:0000534","label":"Abnormal eyebrow morphology","primary":false},{"hpoId":"HP:0000499","label":"Abnormal eyelash morphology","primary":false},{"hpoId":"HP:0005916","label":"Abnormal metacarpal morphology","primary":false},{"hpoId":"HP:0001172","label":"Abnormal thumb morphology","primary":false},{"hpoId":"HP:0003312","label":"Abnormal vertebral body morphology","primary":false},{"hpoId":"HP:0002814","label":"Abnormality of the lower limb","primary":false},{"hpoId":"HP:0002817","label":"Abnormality of the upper limb","primary":false},{"hpoId":"HP:0000528","label":"Anophthalmia","primary":false},{"hpoId":"HP:0002139","label":"Arrhinencephaly","primary":false},{"hpoId":"HP:0007598","label":"Bilateral single transverse palmar creases","primary":false},{"hpoId":"HP:0000581","label":"Blepharophimosis","primary":false},{"hpoId":"HP:0006487","label":"Bowing of the long bones","primary":false},{"hpoId":"HP:0011304","label":"Broad thumb","primary":false},{"hpoId":"HP:0001215","label":"Camptodactyly of 2nd-5th fingers","primary":false},{"hpoId":"HP:0001241","label":"Capitate-hamate fusion","primary":false},{"hpoId":"HP:0000175","label":"Cleft palate","primary":false},{"hpoId":"HP:0000204","label":"Cleft upper lip","primary":false},{"hpoId":"HP:0004209","label":"Clinodactyly of the 5th finger","primary":false},{"hpoId":"HP:0000028","label":"Cryptorchidism","primary":false},{"hpoId":"HP:0002002","label":"Deep philtrum","primary":false},{"hpoId":"HP:0005280","label":"Depressed nasal bridge","primary":false},{"hpoId":"HP:0000494","label":"Downslanted palpebral fissures","primary":false},{"hpoId":"HP:0003042","label":"Elbow dislocation","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0003038","label":"Fibular hypoplasia","primary":false},{"hpoId":"HP:0009380","label":"Finger aplasia","primary":false},{"hpoId":"HP:0006101","label":"Finger syndactyly","primary":false},{"hpoId":"HP:0000454","label":"Flared nostrils","primary":false},{"hpoId":"HP:0001849","label":"Foot oligodactyly","primary":false},{"hpoId":"HP:0002007","label":"Frontal bossing","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0001510","label":"Growth delay","primary":false},{"hpoId":"HP:0000218","label":"High palate","primary":false},{"hpoId":"HP:0002827","label":"Hip dislocation","primary":false},{"hpoId":"HP:0000085","label":"Horseshoe kidney","primary":false},{"hpoId":"HP:0000238","label":"Hydrocephalus","primary":false},{"hpoId":"HP:0000327","label":"Hypoplasia of the maxilla","primary":false},{"hpoId":"HP:0010650","label":"Hypoplasia of the premaxilla","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0011671","label":"Interrupted inferior vena cava with azygous continuation","primary":false},{"hpoId":"HP:0001382","label":"Joint hypermobility","primary":false},{"hpoId":"HP:0009748","label":"Large earlobe","primary":false},{"hpoId":"HP:0000343","label":"Long philtrum","primary":false},{"hpoId":"HP:0000369","label":"Low-set ears","primary":false},{"hpoId":"HP:0001572","label":"Macrodontia","primary":false},{"hpoId":"HP:0001440","label":"Metatarsal synostosis","primary":false},{"hpoId":"HP:0000347","label":"Micrognathia","primary":false},{"hpoId":"HP:0000568","label":"Microphthalmia","primary":false},{"hpoId":"HP:0002342","label":"Moderate intellectual disability","primary":false},{"hpoId":"HP:0000648","label":"Optic atrophy","primary":false},{"hpoId":"HP:0008081","label":"Pes valgus","primary":false},{"hpoId":"HP:0001830","label":"Postaxial foot polydactyly","primary":false},{"hpoId":"HP:0001162","label":"Postaxial hand polydactyly","primary":false},{"hpoId":"HP:0000358","label":"Posteriorly rotated ears","primary":false},{"hpoId":"HP:0008897","label":"Postnatal growth retardation","primary":false},{"hpoId":"HP:0011220","label":"Prominent forehead","primary":false},{"hpoId":"HP:0000278","label":"Retrognathia","primary":false},{"hpoId":"HP:0000960","label":"Sacral dimple","primary":false},{"hpoId":"HP:0001852","label":"Sandal gap","primary":false},{"hpoId":"HP:0010864","label":"Severe intellectual disability","primary":false},{"hpoId":"HP:0003026","label":"Short long bone","primary":false},{"hpoId":"HP:0003196","label":"Short nose","primary":false},{"hpoId":"HP:0012745","label":"Short palpebral fissure","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0005736","label":"Short tibia","primary":false},{"hpoId":"HP:0000954","label":"Single transverse palmar crease","primary":false},{"hpoId":"HP:0005048","label":"Synostosis of carpal bones","primary":false},{"hpoId":"HP:0100240","label":"Synostosis of joints","primary":false},{"hpoId":"HP:0001762","label":"Talipes equinovarus","primary":false},{"hpoId":"HP:0008368","label":"Tarsal synostosis","primary":false},{"hpoId":"HP:0000233","label":"Thin vermilion border","primary":false},{"hpoId":"HP:0002982","label":"Tibial bowing","primary":false},{"hpoId":"HP:0001770","label":"Toe syndactyly","primary":false},{"hpoId":"HP:0011478","label":"True anophthalmia","primary":false},{"hpoId":"HP:0012741","label":"Unilateral cryptorchidism","primary":false},{"hpoId":"HP:0005293","label":"Venous insufficiency","primary":false}],"ledeHtml":"Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures (coloboma).","mondoId":"MONDO:0008800","records":[{"frequencyKind":"reported","key":"002e73526e0cf47b7546c1ab0dcc59d4a17b39818320a142066935a003514ee9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003196","is_excluded":false,"label":"Short nose","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"0316cdd8b573cf24da29a02218ea87549df9e702544d1a5bc3b768d7fa0d156a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003042","is_excluded":false,"label":"Elbow dislocation","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"035d8176b0d39e5a524dc69e0e9c644becdba436a8f0b3c23c34403ec90d795b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"0425e87a595600be3993d46d3684b2b51cc2edef6f566d6573247c6b76103bd8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002139","is_excluded":false,"label":"Arrhinencephaly","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"123c8b7b72ddb418398bc8169db307d6fc08d425b6ae1a071ac36d96c8c8df6c","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011478","is_excluded":false,"label":"True anophthalmia","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"12c16f2c6a9702bf9e6568a423bfaef099fe3fe097b84863b2acbb93f5c2fdb9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0001215","is_excluded":false,"label":"Camptodactyly of 2nd-5th fingers","onset_id":null,"reference":"PMID:21194678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1369a96087e5239af98715969c5163cbef537999c17616cb3b489106a7b3060d","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000568","is_excluded":false,"label":"Microphthalmia","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"14dbb57434f0db2c2b28ff16b049e28e7ee855cb68e972f61fd6ece2055530b9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000581","is_excluded":false,"label":"Blepharophimosis","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"154d0fdd39c2878bae1b391c4a7b64508599ade046b0ebafdf71962ef1365bee","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000358","is_excluded":false,"label":"Posteriorly rotated ears","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"1b6a07216d5ae2957f9172dde75431a7a074939519d196ce8d20998ba15db509","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001849","is_excluded":false,"label":"Foot oligodactyly","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1fe16ba1b9ae44cb6576b010b911daf9e659327200473a8e433f00acaff07c29","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000648","is_excluded":false,"label":"Optic atrophy","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"229fc0e68b1ac24f7e86f57c9df76a7dceca5d36f978be6c7696eff492bb6197","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000204","is_excluded":false,"label":"Cleft upper lip","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"28352e34406681c66aa841e2270a488be5cbe7378cd19925c077f2fa0366008e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001162","is_excluded":false,"label":"Postaxial hand polydactyly","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"28e4a0554c0034e839fcf0a9ab0b8dd79e9ed1685607d55e13f238a2dc42592d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000204","is_excluded":false,"label":"Cleft upper lip","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"291e9632efee04dbcd0aa53135124547df4626c64af8e2dab079c1fab2b64ae9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0005709","is_excluded":false,"label":"2-3 toe cutaneous syndactyly","onset_id":null,"reference":"PMID:21194678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2f039c3e2d4ba0ebcda89fe0ea2de496c83267326d2546966d94738d5ae1f7a3","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"300b19c73520f543874d44f5b785d8574dfce10c27c2104dd0250cda98e34703","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001852","is_excluded":false,"label":"Sandal gap","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"34f4ddaf4f16cb6f97421fd72e7fc12a61e22b5a84467e75b2be24764937b057","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001830","is_excluded":false,"label":"Postaxial foot polydactyly","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"352e97bfc4c9cb89016b551362def2874f77a5dc12eb42269ce42bdd02ef2fe1","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0008897","is_excluded":false,"label":"Postnatal growth retardation","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"35abca213d1f0fc624dbf8d75cfd56fa6624c18483e732fa39a3c44e9abb2bae","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"PCS","frequency_raw":"0/4","hpo_id":"HP:0000499","is_excluded":true,"label":"Abnormal eyelash morphology","onset_id":null,"reference":"PMID:21194678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3d9a98f26bb99e27e5cbb464576672ffd9e4b7f4138a1a6185aa627c759556dc","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0000528","is_excluded":false,"label":"Anophthalmia","onset_id":null,"reference":"PMID:21194678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"3dd8088f5b38b173e16f1b5bc0a3bbdabffa7610a50a580a5c609f4b3df2d9e6","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000327","is_excluded":false,"label":"Hypoplasia of the maxilla","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3fb5e34554095327e0c31d441d2fbac6ea2ba4e2b3cc3219351b1f2ae347ae58","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0006101","is_excluded":false,"label":"Finger syndactyly","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4375b3fdf616a9ec56cf35c2e2fc1e2a595e24bdf82f60357244b5262a6e90eb","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"44c55479072f12af894c5a5757d1695e90e134403b4144e85f2015a97c5fac3a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008368","is_excluded":false,"label":"Tarsal synostosis","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4606d25fa41279c997ddf3f2f66d545ca621a1af2219ca52bde93ed38c2173fa","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003038","is_excluded":false,"label":"Fibular hypoplasia","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"48b3f07ef2c59f99950188703b8484e476dcf334e3f4e9e3216b41285d361e76","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001572","is_excluded":false,"label":"Macrodontia","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4a89b4364e78f2444f64c7f43cde8f58df09ee6f15a1a564cfd0822adcb3e559","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002342","is_excluded":false,"label":"Moderate intellectual disability","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4a90bb8be7af48ccb007dee9a58f9dd129ff346c4bd72cdbd7dcc570d621a8fb","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011671","is_excluded":false,"label":"Interrupted inferior vena cava with azygous continuation","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"50775987c6420b2f9c197b2481fc092c401bd092c473c0b5dea64355ed98322d","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000085","is_excluded":false,"label":"Horseshoe kidney","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5406578dea4b6fcbd20e4306d9e6608c33db2e29d5ca69eb437fd58880ab72a3","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011220","is_excluded":false,"label":"Prominent forehead","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5444d5bb94c1bdb15ed6eafbf102f49f940423b49537ccee615ac8c212750520","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001770","is_excluded":false,"label":"Toe syndactyly","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"55ed421246621e3b6d4873bbc31c1facb7f7ae1e122aa8369d331cd562fff533","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"575d8116e70ae57f375f7950de6d33f26eedc2146477b12989e0da99b15fc53a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006487","is_excluded":false,"label":"Bowing of the long bones","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"58ec8f53688d0c3d32fd6d127c2fd0a488819bb78136824def70983927090cea","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004209","is_excluded":false,"label":"Clinodactyly of the 5th finger","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"58f3dacd8400d6748182d76f5af0a7679ac622433681746c468c818feb2b9dba","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005048","is_excluded":false,"label":"Synostosis of carpal bones","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"59830c2a1edc218660a47593f1dc6168d2d61a10827dae769c79f3ef8d7320af","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001215","is_excluded":false,"label":"Camptodactyly of 2nd-5th fingers","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"614eda541a5b0be7516f6f2b3289bc8b3484f25c335121733183c4e3fd256f2a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000343","is_excluded":false,"label":"Long philtrum","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"61697133fc5a1db86082ddaf321104bb59fd03aac35251e1a4ac74f81d8c5998","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002814","is_excluded":false,"label":"Abnormality of the lower limb","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6830bfa94b7233536763d677255a6349909595568acc7ab039f1b8a38547cdd4","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002982","is_excluded":false,"label":"Tibial bowing","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"68aeabcd523a3676e8b451e20fdbb9a18824733dc9591ea641f93df7b5f7b430","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0001440","is_excluded":false,"label":"Metatarsal synostosis","onset_id":null,"reference":"PMID:21194678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6abd3479018f10dc6936d123cd4ea23decbbb7e6be5760e79012f11470009f1c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0010715","is_excluded":false,"label":"2-5 toe syndactyly","onset_id":null,"reference":"PMID:21194678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6d02d2a846791cb67d548ef1993d15fd3fb849593abc4b34ed8c39ffbd29579d","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000534","is_excluded":false,"label":"Abnormal eyebrow morphology","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"6d16296c62ed2cd9b60ad1f350773a12b7d442bfb49e1d6b4ee52ea21994b6fc","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001762","is_excluded":false,"label":"Talipes equinovarus","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"6f65ec3202eedab4c38d289e1b5dc862292a270f3efd462ab7d827d13a58966f","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0000954","is_excluded":false,"label":"Single transverse palmar crease","onset_id":null,"reference":"PMID:21194678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"70366b05110521ba294316043d9cbcf63abe16d3bb5987841f9cc0782bac018c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000238","is_excluded":false,"label":"Hydrocephalus","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7193baba4669becc387023c722143042758e1a5067e188993018210290efd777","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001770","is_excluded":false,"label":"Toe syndactyly","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"7901f35adefde692b9d86693bacd7dcfe9fa35aad5a2d5ce4e11dc1af563b10c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002002","is_excluded":false,"label":"Deep philtrum","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7909ab05a6a8f3694767b61b74846b147e9c14f6143262aae9e3b314b643c4d9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001762","is_excluded":false,"label":"Talipes equinovarus","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"79cd333683645256d8e677786cb124a57813bc171bf03081aee09ce05d803005","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"PMID:21194678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"80a39860943bfe853c649558630e33e0901faa86bd0ad7958c651727259eff4d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001162","is_excluded":false,"label":"Postaxial hand polydactyly","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"820d4c6ff3544403d456d90d8b1baeeef26c586f63e322aba2350d2b4564473b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0009380","is_excluded":false,"label":"Finger aplasia","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"83660849ed61ab549fa51b81a2d36005d3f55331a34d45dfc4e744a1cd0a20ff","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002827","is_excluded":false,"label":"Hip dislocation","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"888c57edab90275a5e4433d729fcdc0d708e5d8a64288cc021b6a37bd06fcf3f","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0012741","is_excluded":false,"label":"Unilateral cryptorchidism","onset_id":null,"reference":"PMID:21194678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"8afb005efe86da6df5d46d5c56d5e07f1af0450a147ba457bb898183527925b2","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000175","is_excluded":false,"label":"Cleft palate","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8daa21310c0cffa0fde379f97b9908f345e360009e7c8f0ebfbbfe1a1c854b9f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0012745","is_excluded":false,"label":"Short palpebral fissure","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8e1a73ef96c4e0e41bcdbf0cbe4ee0c314520f1209dbba31525042fd16d52c97","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:21194678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8e4039fd44dfd46bc6769c393d13b51254872129c98ae97b45de2749e388fd8a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100240","is_excluded":false,"label":"Synostosis of joints","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"914b3da044a016e4c67aa553862c8ef2b340ba06b87abdc19507f0a29fbccaf4","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"96ba986f71db6edb37ce0f75ca22d161da98163aeb8c93f64931c4b4fb700c07","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"9e242d940362bdae522c18adb81a06e947b0a06f2035e0bba7b59fda66570e07","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000454","is_excluded":false,"label":"Flared nostrils","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a249949a6710c18f7449abf9e2ad75f594c3caa05c1af9fb5f75385b9e8c2aaf","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"abd9e0fb69d8bd34c82ffcc443d6ea003c33fab9c27e8645d14d02fa02206b36","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0009748","is_excluded":false,"label":"Large earlobe","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"adc7a9bdbf80244556ca1a91c024ee00563b89b783e9b8fe5198e697579932e6","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"af13ee0c1ebd73a0acfcecb47bab5a1b06011c6dd63bc944f5138b9b7a52b310","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0001852","is_excluded":false,"label":"Sandal gap","onset_id":null,"reference":"PMID:21194678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b08eff76faf4533912df5e0a560163c85cac7f3644642f8bd0ca378e7c0c0753","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0005867","is_excluded":false,"label":"4-5 metacarpal synostosis","onset_id":null,"reference":"PMID:21194678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"b0b3cadbd8318f8cdf94c2587ebf292097f95156adf99020ff704a8405e9fd84","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011220","is_excluded":false,"label":"Prominent forehead","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b0e98850265ae445a9c2d390076a70cc18796a0782adc042728bac798714de20","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0007598","is_excluded":false,"label":"Bilateral single transverse palmar creases","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b2e4d44b07e939a438c8724ea41b8e0a0f29ea3ab7ef314d0a2a154b416f365d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0010864","is_excluded":false,"label":"Severe intellectual disability","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b2f1124c6e8430bd38e370aba39fe1c78113a2605fa32e84faa5303ca70a4063","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000233","is_excluded":false,"label":"Thin vermilion border","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b3da2344bc0437a9a7ba71f22a253137fde1929c58464da96f1915b3d359319a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000175","is_excluded":false,"label":"Cleft palate","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b472520ad63f02da7f234b3373c5efc0204996ab3f7316dd1cdf6f349390109d","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b885578f3d1b1b5feca04693ef12cb778727a655f4a69814043ac1108059335a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002817","is_excluded":false,"label":"Abnormality of the upper limb","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b9ae8faf18c48363517e0516635c415364b93203f2e0c45bef175bff68af63ef","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ba51af48cd9a524338cf0011551003811603f496c5a7e9cbbf983f0ae372ff68","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"bd1ce584c983ee38c3482915d1dfab634d2ae817a43d885d481e7ed0a723bcbc","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0000960","is_excluded":false,"label":"Sacral dimple","onset_id":null,"reference":"PMID:21194678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"bd273a76bf2c0d589d9a9f54ffdce6f9ce7d5ccabf45166d4e0a0d661d4c6773","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c23d62b75e9401641c756aeec4e20efa683f5ee61519be5031edd9cadb8cb67c","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000568","is_excluded":false,"label":"Microphthalmia","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"d347b820bf6175b90af7bffbe323d4b480c5eadebcb759a520c840ea63a86bc3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0003038","is_excluded":false,"label":"Fibular hypoplasia","onset_id":null,"reference":"PMID:21194678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"d3d2d6bbc0c30d98ed2ce11421682235e9d975c0347d75dcb447443f889f1e01","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0009380","is_excluded":false,"label":"Finger aplasia","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d8bf5801ee2b827ed8d6ebdfe2a62906a2f3c468ec9bb5696a17181ce2ee5af3","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000581","is_excluded":false,"label":"Blepharophimosis","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"da54c094e9e243fd67797ecd52f87242c7ca468350f6f201e45c2c40d47c5006","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0010650","is_excluded":false,"label":"Hypoplasia of the premaxilla","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"dd5b57390ba333d3544a8d1399015c965fb5c1f0b1522822300239fe42f26bfe","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003026","is_excluded":false,"label":"Short long bone","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"dee36bbeee35910b01652f368cd6b399b4d4ee33a1c4e3d4e890bf2b6d2bb994","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"dfd933a38ef30f0fa305f2d8ea4c83c29ea4d3b02011da261f2168ac28b455c1","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000278","is_excluded":false,"label":"Retrognathia","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e234860c56b5da605440d6c8000be44b5aac10eb72339699aaef7621c79f5d25","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000358","is_excluded":false,"label":"Posteriorly rotated ears","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e29e6137da1e46b4aec3667974ae0c2f460b3cf03166efb9ce14295a87ced2e2","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0005293","is_excluded":false,"label":"Venous insufficiency","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e4e6fe5a4c316178393f4a35d05f4fe0e8b08ae302655a57a8c22f4a39b4dee6","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"PMID:21194678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e7259cdcc9f16780623eb262f8cccf67b56f5d5197bbc7e81aa4425a38eb3108","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0008081","is_excluded":false,"label":"Pes valgus","onset_id":null,"reference":"PMID:21194678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"eb9f587b10cd0b34f3b84a08b21479d628a06c528857689f9c24a8be37fc50e4","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005916","is_excluded":false,"label":"Abnormal metacarpal morphology","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ec68cb03de32d7d6412a4fb4f5cf7bda84dfb8da480534740f605afd5ffe8731","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011304","is_excluded":false,"label":"Broad thumb","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"eda5cdd45b66821894f0e2fb4c0b2f703c4bcd6f49d857295e61a527acd24839","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001172","is_excluded":false,"label":"Abnormal thumb morphology","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ede4e10d6e9da0a14c76ceaee45aba669e6a2cfc3332b608ea208652c24ba3a2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005736","is_excluded":false,"label":"Short tibia","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f022f2259c43235f1681c50e4675ad7401fd012e4e5f050833ccca03ee2f3e2d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002827","is_excluded":false,"label":"Hip dislocation","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"f39ba6b0c818b5856adba08a202d6d7a903c4c0c4f7b0f3685f25ff7f577b02a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0001241","is_excluded":false,"label":"Capitate-hamate fusion","onset_id":null,"reference":"PMID:21194678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f48044cfade9229f3d4b5068406936075fc9858fa72bd5e3f5a37e984c7ab17d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0002982","is_excluded":false,"label":"Tibial bowing","onset_id":null,"reference":"PMID:21194678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f80798b84855b363352fec94004166618f3f7773047187a8e11e1ef51370d926","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"PCS","frequency_raw":"13/14","hpo_id":"HP:0001849","is_excluded":false,"label":"Foot oligodactyly","onset_id":null,"reference":"OMIM:206920;PMID:21194678","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"fbdf28a7efe20599d5f6f7d58603497fc983d56e3ab14f295dfa063c4a78c27a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003312","is_excluded":false,"label":"Abnormal vertebral body morphology","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"fd2c8573e22e4202fcd3d771c1cb3210402f961ebf0734cffd3508cf2e6e0d35","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:206920","disease_name":"Microphthalmia with limb anomalies","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001830","is_excluded":false,"label":"Postaxial foot polydactyly","onset_id":null,"reference":"OMIM:206920","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"fd399577ce018460e1b75240f80c21fcdbfd524ec315a106ce947a952cde4e9f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1106","disease_name":"Microphthalmia with limb anomalies","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"ORPHA:1106","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/ophthalmo-acromelic-syndrome\">Ophthalmo-acromelic syndrome</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the SMOC1 gene cause ophthalmo-acromelic syndrome. The SMOC1 gene provides instructions for making a protein called secreted modular calcium-binding protein 1 (SMOC-1). This protein is found in basement membranes, which are thin, sheet-like structures that support cells in many tissues and help anchor cells to one another during embryonic development. The SMOC-1 protein attaches (binds) to many different proteins and is thought to regulate molecules called growth factors that stimulate the growth and development of tissues throughout the body. These growth factors play important roles in skeletal formation, normal shaping (patterning) of the limbs, as well as eye formation and development. The SMOC-1 protein also likely promotes the maturation (differentiation) of cells that build bones, called osteoblasts.</p><p>SMOC1 gene mutations often result in a nonfunctional SMOC-1 protein. The loss of SMOC-1 could disrupt growth factor signaling, which would impair the normal development of the skeleton, limbs, and eyes. These changes likely underlie the anophthalmia and skeletal malformations of ophthalmo-acromelic syndrome. It is unclear how SMOC1 gene mutations lead to the other features of this condition.</p><p>Some people with ophthalmo-acromelic syndrome do not have an identified mutation in the SMOC1 gene. The cause of the condition in these individuals is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/ophthalmo-acromelic-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Ophthalmo-acromelic syndrome?"},{"bodyHtml":"<p>The most common hand and foot malformation seen in ophthalmo-acromelic syndrome is missing fingers or toes (oligodactyly). Other frequent malformations include fingers or toes that are fused together (syndactyly) or extra fingers or toes (polydactyly). These skeletal malformations are often described as acromelic, meaning that they occur in the bones that are away from the center of the body. Additional skeletal abnormalities involving the long bones of the arms and legs or the spinal bones (vertebrae) can also occur. Affected individuals may have distinctive facial features, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), or intellectual disability.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/ophthalmo-acromelic-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"ophthalmo-acromelic-syndrome","sourceDocuments":[{"name":"Ophthalmo-acromelic syndrome","reviewed":"2014-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:55.956480+00:00","label":"Causes","pageSha256":"1b5f19799ded4809fceb804ff7a8d5ee3fac14bb4d89ba5c8db4ec91e72dda9d","sourceUrl":"https://medlineplus.gov/genetics/condition/ophthalmo-acromelic-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/ophthalmo-acromelic-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":"Ophthalmo-acromelic syndrome"},"schemaVersion":1}