{"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:0011240/OMIM:602501","label":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","mondoId":"MONDO:0011240","onsetQualifier":null,"recordKeys":["02b3409f69076a3881f453370ca7701635bbdcc5b98385342fbd7591c2cd4da3","08bed2a682040f4902ff49177f9df3436063e20f33b31385851bb9bd98cbcb9e","0bce15bc3be48f5c961a0626e30eb1dfa1229414fd76ca31faf0cecebc44a3ec","104cca5ee1b0b9e82557af66592d98f12db87aba7f138decb1bbe4660982b8ff","16d4ea24e8e0396a5209741f221a15ecf8f764369c3c50aa2ee875b12201dabf","34dc085f3d88903d4f49241e8ef251f38219cfa5ae02e68376387e3d0bb7c99d","400aeec4627abcf58b11443aac6c643d08b1ead4e71fb13fce1006710ce5a7cf","5c2a17ad7412c4f3c2a47d37bf823b3380847369018a2286f51e69aeb734937e","5f2a9f817c6ee4a8e3c8cc5aad09af44608c264bc2c3637d0e97a42e93263e46","657e25984fd2e26004cf3e5b53d461f154aa525dc09b3f1ae223b5b9381394c0","67310f0694549b65dab83db5993efa182b0a7af0fc60e711ded9299deb6df081","8036305f1dfe6874d3ada1a06a93b95eaec3dc740d25a561d145e81f0850d521","83712ed84e5fe1319eb48f8fb9d113d3853933f9406b287f6b8e6ee0fda45013","88ab9c50540f69164e4733282ccb899d667fd67d564259355fc7cb1f299257d8","8f843a3480317f04c19ee02a7583dc00fdceec542507119dab5a201fdf9bce19","931745c762561f5baaaa4d4b07d1c82ea857134a07bb4974b36f6f4840620b6b","96cc3a669e0fbd0ef10d1affaa145fac2f974c8cac9d22903ad899c3a4b7bea2","a997322f66e68a71b05220509aa636b3dfc784b522a57801632567b320eaff97","aa206539f29eb8bfcc78475fd2b5734da32c543db45a61b4e36a41046d36f9a9","bc887659d018441cd0069972094fa90adb8cf63bcc59b0e256bba2c97a709cc5","be80ee7a24508c3903c1946339f4065a3540a0248e53437200aac3d17946b2c3","c2b1e01319bc6f7670411586e09521b8be6605b85ce23de2d442899c3f85bb48","cc8bc7ac4cbe51d6b15d15a642eca2fff076afad547d9c458a3cbdb8cf9bac48","d0e697cd18bbe6aa47cf70a3473a1f2e292aa961b69c4fedde2e41d32504720c","d751e68b382bb6f0a2ce8e2a2ccff6fc00330cdf7b9a36441a7e7dfae530f61d","d8fd7a2d3381a2df53800c0ebe7157910cb14d831b5cb92424aa60f6a1128b03","e5541acd01760fceeb9901aaa5d34348e283073f78e800017c16e991da16ec3b","e773d4e22ab36aae7384460e79f3a63408c4e82bd2b4f21efb62b370b8ce8cbb","f84cc48eb4a35b476748d8f5170243888a4e9a6b59ef9d6211817dd8455d05f9"],"recordQualifiers":{},"scopeLabel":"OMIM:602501","sourceIds":["OMIM:602501"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0011240/ORPHA:60040","label":"Megalencephaly-capillary malformation-polymicrogyria syndrome","mondoId":"MONDO:0011240","onsetQualifier":null,"recordKeys":["0460e901c8872fd0331ad90267725233bbd847229a1040e86e609cbc7ab73c67","10c63b4b63d3e23de78e4a43b5d6a111b47e4c32ccf362fcb020fdfe3ae449f7","179013c44c95be03fd641f469a629374de20cf85ca35dfdaf1699d02234472b3","1c0c3fe3d2191f66e2de575f2bd6304eb5cb2135835b5f00133c31d6a0c68a9c","1f8bfc1f55a65f5e99e986817f065ab64de0ba4fd2ae2e04c26a344f68f9f716","2f5ec78cea4456b30a5b09ae94e9502a3a461d1d944649bc2fe437aa80c8e339","3657b385ad2a4a0eb197b7fedbda8a4a0a170cf015a79763aebc6dc3b8456473","37cbe307090848e53056bc2ad76ab34c0228e4cc92e442b28d7d7c5b30e6a16d","47b30706da6e4050aaaa0edb4b676a284860731203e09498e27c52f5818245a3","49150522854a2926bd221e448ca54bd2592e6977a7757166c7c56c05c35dc066","4b8f325fa677545875c2cd09c1e3decf9da342fc99d2ec8ccfbd7e445b664a81","541c5ac5d40f9a6411d79319e3ec02d9e8f01ab49853d2a69d5a8fa559a8b0bd","60b692fa3872362bc0032b323b6d04ffcbf497db0dc7a3ee24e7dca0b5cde0a0","640333bc4bf2ae3d50494c76e5c8066f4850f41987c4cc43f43f60177ef16115","663c91dbe6e2ffe2a38a1fd43370d7f421721ef8c0cccb4b7e58b82242833fb0","714a5700bce4dec5f038b64ff06ee5b8b511382aa59c416dc1d340ad65401ccd","73db2f381d13f3a90a90cfd760e255558654ede5a92928ccc354efad88aadd56","77d22698369ba77095bdba1741a7d64403a6008e9dc857da8f2a6edf92db82e2","815fc90784676df1c2045eaaae7d0de0b6add2fcdf9af1c58ba605dbdca0d53e","8835a43ffa967111a855c2142522306dae75f46c8d98eb329304ac3f9de7bc51","8af1d6cdfe9cac7bad8a4cb99dd21879f549e3a785acb34ae19156df63186e6a","9ff54adde9ae6ae8467a7f11790ff35fe01cda4c7fd0630a01c33bb7a88d0099","ace712f646b495b6f5b017a8a88b13d5267174d60679c50f05b7c4bc463e54ff","aeb9a20fd8c74b75138e37717317dad54dea66ad6e393a5dadd01072ae06af04","b4df14eb352ebf2f624964efabfe829c6e9c9101bad2566244991083593b78b9","b752a48b0570c1894e6d0e20090241fa15f90a764b2b6ab6f07a5c2713a8f9b9","bc6418fd0bd58805bafe1cfe899a956d53d9806e381f3a4ce78b9018800756de","c58c648355ce2756a844f73c2cd3d56cbec34bf9ac00eed54d4c6350b66b6614","cd7b7c6f1208e48a1a08789d634cc35f2ede2fb2acc3d958a25586a222feb4d5","cfa4a524c77f87a53882c0f7d5583cd0968ceff19042f1ecf86f750a551a987d","e9d0bb768738ba0a80fac5533be6b2fe9f8a14504dc644ac6efef57d2a2ec90b","ec09b04b5a002817a9e5c2dde66e4a74d38c205a2553ee5e61cfcf8aaf9952c5","fb658e724a5ac38a27f36aace218406883dd5300fbb03f8b3bd812fedb9209f7","fd6c29c7d8c6a89344f519f743637a26757ddb85bf7d2154f65e9a16835c595d","ffbf6babf26e049ffc877bed191923b2048aa7d105c96baca371351749528a8c"],"recordQualifiers":{},"scopeLabel":"ORPHA:60040","sourceIds":["ORPHA:60040"],"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:0011240/OMIM:602501","MONDO:0011240/ORPHA:60040"],"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":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":64,"sourceGroups":{"omim":29,"orphanet":35,"published":0}},"features":[{"hpoId":"HP:0030680","label":"Abnormal cardiovascular system morphology","primary":false},{"hpoId":"HP:0012639","label":"Abnormal nervous system morphology","primary":false},{"hpoId":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","primary":false},{"hpoId":"HP:0011675","label":"Arrhythmia","primary":false},{"hpoId":"HP:0100026","label":"Arteriovenous malformation","primary":false},{"hpoId":"HP:0100555","label":"Asymmetric growth","primary":false},{"hpoId":"HP:0000337","label":"Broad forehead","primary":false},{"hpoId":"HP:0002389","label":"Cavum septum pellucidum","primary":false},{"hpoId":"HP:0002637","label":"Cerebral ischemia","primary":false},{"hpoId":"HP:0002308","label":"Chiari malformation","primary":false},{"hpoId":"HP:0000965","label":"Cutis marmorata","primary":false},{"hpoId":"HP:0000490","label":"Deeply set eye","primary":false},{"hpoId":"HP:0005280","label":"Depressed nasal bridge","primary":false},{"hpoId":"HP:0000494","label":"Downslanted palpebral fissures","primary":false},{"hpoId":"HP:0000286","label":"Epicanthus","primary":false},{"hpoId":"HP:0000324","label":"Facial asymmetry","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0006101","label":"Finger syndactyly","primary":false},{"hpoId":"HP:0001829","label":"Foot polydactyly","primary":false},{"hpoId":"HP:0002007","label":"Frontal bossing","primary":false},{"hpoId":"HP:0000293","label":"Full cheeks","primary":false},{"hpoId":"HP:0001290","label":"Generalized hypotonia","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0001161","label":"Hand polydactyly","primary":false},{"hpoId":"HP:0100790","label":"Hernia","primary":false},{"hpoId":"HP:0000348","label":"High forehead","primary":false},{"hpoId":"HP:0000238","label":"Hydrocephalus","primary":false},{"hpoId":"HP:0001034","label":"Hypermelanotic macule","primary":false},{"hpoId":"HP:0000316","label":"Hypertelorism","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:0009748","label":"Large earlobe","primary":false},{"hpoId":"HP:0001909","label":"Leukemia","primary":false},{"hpoId":"HP:0000256","label":"Macrocephaly","primary":false},{"hpoId":"HP:0001355","label":"Megalencephaly","primary":false},{"hpoId":"HP:0002858","label":"Meningioma","primary":false},{"hpoId":"HP:0000568","label":"Microphthalmia","primary":false},{"hpoId":"HP:0002664","label":"Neoplasm","primary":false},{"hpoId":"HP:0002667","label":"Nephroblastoma","primary":false},{"hpoId":"HP:0001052","label":"Nevus flammeus","primary":false},{"hpoId":"HP:0000648","label":"Optic atrophy","primary":false},{"hpoId":"HP:0001548","label":"Overgrowth","primary":false},{"hpoId":"HP:0010442","label":"Polydactyly","primary":false},{"hpoId":"HP:0002126","label":"Polymicrogyria","primary":false},{"hpoId":"HP:0004481","label":"Progressive macrocephaly","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0000319","label":"Smooth philtrum","primary":false},{"hpoId":"HP:0001159","label":"Syndactyly","primary":false},{"hpoId":"HP:0100585","label":"Telangiectasia of the skin","primary":false},{"hpoId":"HP:0001770","label":"Toe syndactyly","primary":false},{"hpoId":"HP:0001629","label":"Ventricular septal defect","primary":false},{"hpoId":"HP:0002119","label":"Ventriculomegaly","primary":false},{"hpoId":"HP:0100761","label":"Visceral angiomatosis","primary":false},{"hpoId":"HP:0000154","label":"Wide mouth","primary":false}],"ledeHtml":"Megalencephaly-capillary malformation syndrome (MCAP) is a disorder characterized by overgrowth of several tissues in the body. Its primary features are a large brain (megalencephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).","mondoId":"MONDO:0011240","records":[{"frequencyKind":"reported","key":"02b3409f69076a3881f453370ca7701635bbdcc5b98385342fbd7591c2cd4da3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000238","is_excluded":false,"label":"Hydrocephalus","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"0460e901c8872fd0331ad90267725233bbd847229a1040e86e609cbc7ab73c67","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002308","is_excluded":false,"label":"Chiari malformation","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"08bed2a682040f4902ff49177f9df3436063e20f33b31385851bb9bd98cbcb9e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"0bce15bc3be48f5c961a0626e30eb1dfa1229414fd76ca31faf0cecebc44a3ec","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000286","is_excluded":false,"label":"Epicanthus","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"104cca5ee1b0b9e82557af66592d98f12db87aba7f138decb1bbe4660982b8ff","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"10c63b4b63d3e23de78e4a43b5d6a111b47e4c32ccf362fcb020fdfe3ae449f7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0007360","is_excluded":false,"label":"Aplasia/Hypoplasia of the cerebellum","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"16d4ea24e8e0396a5209741f221a15ecf8f764369c3c50aa2ee875b12201dabf","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"179013c44c95be03fd641f469a629374de20cf85ca35dfdaf1699d02234472b3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002119","is_excluded":false,"label":"Ventriculomegaly","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1c0c3fe3d2191f66e2de575f2bd6304eb5cb2135835b5f00133c31d6a0c68a9c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000154","is_excluded":false,"label":"Wide mouth","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1f8bfc1f55a65f5e99e986817f065ab64de0ba4fd2ae2e04c26a344f68f9f716","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002126","is_excluded":false,"label":"Polymicrogyria","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2f5ec78cea4456b30a5b09ae94e9502a3a461d1d944649bc2fe437aa80c8e339","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001052","is_excluded":false,"label":"Nevus flammeus","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"34dc085f3d88903d4f49241e8ef251f38219cfa5ae02e68376387e3d0bb7c99d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004481","is_excluded":false,"label":"Progressive macrocephaly","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3657b385ad2a4a0eb197b7fedbda8a4a0a170cf015a79763aebc6dc3b8456473","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000648","is_excluded":false,"label":"Optic atrophy","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"37cbe307090848e53056bc2ad76ab34c0228e4cc92e442b28d7d7c5b30e6a16d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001770","is_excluded":false,"label":"Toe syndactyly","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"400aeec4627abcf58b11443aac6c643d08b1ead4e71fb13fce1006710ce5a7cf","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"47b30706da6e4050aaaa0edb4b676a284860731203e09498e27c52f5818245a3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001161","is_excluded":false,"label":"Hand polydactyly","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"49150522854a2926bd221e448ca54bd2592e6977a7757166c7c56c05c35dc066","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100026","is_excluded":false,"label":"Arteriovenous malformation","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4b8f325fa677545875c2cd09c1e3decf9da342fc99d2ec8ccfbd7e445b664a81","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012639","is_excluded":false,"label":"Abnormal nervous system morphology","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"541c5ac5d40f9a6411d79319e3ec02d9e8f01ab49853d2a69d5a8fa559a8b0bd","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000293","is_excluded":false,"label":"Full cheeks","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5c2a17ad7412c4f3c2a47d37bf823b3380847369018a2286f51e69aeb734937e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0100790","is_excluded":false,"label":"Hernia","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5f2a9f817c6ee4a8e3c8cc5aad09af44608c264bc2c3637d0e97a42e93263e46","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000337","is_excluded":false,"label":"Broad forehead","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"60b692fa3872362bc0032b323b6d04ffcbf497db0dc7a3ee24e7dca0b5cde0a0","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100555","is_excluded":false,"label":"Asymmetric growth","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"640333bc4bf2ae3d50494c76e5c8066f4850f41987c4cc43f43f60177ef16115","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000238","is_excluded":false,"label":"Hydrocephalus","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"657e25984fd2e26004cf3e5b53d461f154aa525dc09b3f1ae223b5b9381394c0","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000965","is_excluded":false,"label":"Cutis marmorata","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"663c91dbe6e2ffe2a38a1fd43370d7f421721ef8c0cccb4b7e58b82242833fb0","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002637","is_excluded":false,"label":"Cerebral ischemia","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"67310f0694549b65dab83db5993efa182b0a7af0fc60e711ded9299deb6df081","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001548","is_excluded":false,"label":"Overgrowth","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"714a5700bce4dec5f038b64ff06ee5b8b511382aa59c416dc1d340ad65401ccd","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001034","is_excluded":false,"label":"Hypermelanotic macule","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"73db2f381d13f3a90a90cfd760e255558654ede5a92928ccc354efad88aadd56","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100585","is_excluded":false,"label":"Telangiectasia of the skin","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"77d22698369ba77095bdba1741a7d64403a6008e9dc857da8f2a6edf92db82e2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8036305f1dfe6874d3ada1a06a93b95eaec3dc740d25a561d145e81f0850d521","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001159","is_excluded":false,"label":"Syndactyly","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"815fc90784676df1c2045eaaae7d0de0b6add2fcdf9af1c58ba605dbdca0d53e","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000965","is_excluded":false,"label":"Cutis marmorata","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"83712ed84e5fe1319eb48f8fb9d113d3853933f9406b287f6b8e6ee0fda45013","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8835a43ffa967111a855c2142522306dae75f46c8d98eb329304ac3f9de7bc51","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011675","is_excluded":false,"label":"Arrhythmia","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"88ab9c50540f69164e4733282ccb899d667fd67d564259355fc7cb1f299257d8","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000319","is_excluded":false,"label":"Smooth philtrum","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8af1d6cdfe9cac7bad8a4cb99dd21879f549e3a785acb34ae19156df63186e6a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8f843a3480317f04c19ee02a7583dc00fdceec542507119dab5a201fdf9bce19","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002119","is_excluded":false,"label":"Ventriculomegaly","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"931745c762561f5baaaa4d4b07d1c82ea857134a07bb4974b36f6f4840620b6b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"96cc3a669e0fbd0ef10d1affaa145fac2f974c8cac9d22903ad899c3a4b7bea2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002126","is_excluded":false,"label":"Polymicrogyria","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9ff54adde9ae6ae8467a7f11790ff35fe01cda4c7fd0630a01c33bb7a88d0099","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a997322f66e68a71b05220509aa636b3dfc784b522a57801632567b320eaff97","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002389","is_excluded":false,"label":"Cavum septum pellucidum","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"aa206539f29eb8bfcc78475fd2b5734da32c543db45a61b4e36a41046d36f9a9","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001909","is_excluded":false,"label":"Leukemia","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ace712f646b495b6f5b017a8a88b13d5267174d60679c50f05b7c4bc463e54ff","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"aeb9a20fd8c74b75138e37717317dad54dea66ad6e393a5dadd01072ae06af04","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001829","is_excluded":false,"label":"Foot polydactyly","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b4df14eb352ebf2f624964efabfe829c6e9c9101bad2566244991083593b78b9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000256","is_excluded":false,"label":"Macrocephaly","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b752a48b0570c1894e6d0e20090241fa15f90a764b2b6ab6f07a5c2713a8f9b9","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bc6418fd0bd58805bafe1cfe899a956d53d9806e381f3a4ce78b9018800756de","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000490","is_excluded":false,"label":"Deeply set eye","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"bc887659d018441cd0069972094fa90adb8cf63bcc59b0e256bba2c97a709cc5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0010442","is_excluded":false,"label":"Polydactyly","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"be80ee7a24508c3903c1946339f4065a3540a0248e53437200aac3d17946b2c3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c2b1e01319bc6f7670411586e09521b8be6605b85ce23de2d442899c3f85bb48","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001290","is_excluded":false,"label":"Generalized hypotonia","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c58c648355ce2756a844f73c2cd3d56cbec34bf9ac00eed54d4c6350b66b6614","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100761","is_excluded":false,"label":"Visceral angiomatosis","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"cc8bc7ac4cbe51d6b15d15a642eca2fff076afad547d9c458a3cbdb8cf9bac48","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001355","is_excluded":false,"label":"Megalencephaly","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"cd7b7c6f1208e48a1a08789d634cc35f2ede2fb2acc3d958a25586a222feb4d5","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000348","is_excluded":false,"label":"High forehead","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cfa4a524c77f87a53882c0f7d5583cd0968ceff19042f1ecf86f750a551a987d","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0030680","is_excluded":false,"label":"Abnormal cardiovascular system morphology","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d0e697cd18bbe6aa47cf70a3473a1f2e292aa961b69c4fedde2e41d32504720c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002858","is_excluded":false,"label":"Meningioma","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d751e68b382bb6f0a2ce8e2a2ccff6fc00330cdf7b9a36441a7e7dfae530f61d","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002667","is_excluded":false,"label":"Nephroblastoma","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d8fd7a2d3381a2df53800c0ebe7157910cb14d831b5cb92424aa60f6a1128b03","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0009748","is_excluded":false,"label":"Large earlobe","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"e5541acd01760fceeb9901aaa5d34348e283073f78e800017c16e991da16ec3b","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000568","is_excluded":false,"label":"Microphthalmia","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"e773d4e22ab36aae7384460e79f3a63408c4e82bd2b4f21efb62b370b8ce8cbb","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001629","is_excluded":false,"label":"Ventricular septal defect","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e9d0bb768738ba0a80fac5533be6b2fe9f8a14504dc644ac6efef57d2a2ec90b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000324","is_excluded":false,"label":"Facial asymmetry","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ec09b04b5a002817a9e5c2dde66e4a74d38c205a2553ee5e61cfcf8aaf9952c5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0006101","is_excluded":false,"label":"Finger syndactyly","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f84cc48eb4a35b476748d8f5170243888a4e9a6b59ef9d6211817dd8455d05f9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:602501","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"OMIM:602501","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"fb658e724a5ac38a27f36aace218406883dd5300fbb03f8b3bd812fedb9209f7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fd6c29c7d8c6a89344f519f743637a26757ddb85bf7d2154f65e9a16835c595d","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002664","is_excluded":false,"label":"Neoplasm","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ffbf6babf26e049ffc877bed191923b2048aa7d105c96baca371351749528a8c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:60040","disease_name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:60040","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/megalencephaly-capillary-malformation-syndrome\">Megalencephaly-capillary malformation 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>MCAP is caused by mutations in the PIK3CA gene, which provides instructions for making the p110 alpha (p110α) protein. This protein is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K), which plays a role in chemical signaling within cells. PI3K signaling is important for many cell activities, including cell growth and division (proliferation), movement (migration) of cells, and cell survival. These functions make PI3K important for the development of tissues throughout the body, including the brain and blood vessels.</p><p>PIK3CA gene mutations involved in MCAP alter the p110α protein. The altered subunit makes PI3K abnormally active, which allows cells to grow and divide continuously. Increased cell proliferation leads to the overgrowth of the brain, blood vessels, and other organs and tissues characteristic of MCAP.</p><p>MCAP is one of several overgrowth syndromes, including Klippel-Trenaunay syndrome, that are caused by mutations in the PIK3CA gene. Together, these conditions are known as the PIK3CA-related overgrowth spectrum (PROS).</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/megalencephaly-capillary-malformation-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Megalencephaly-capillary malformation syndrome?"},{"bodyHtml":"<p>In individuals with MCAP, megalencephaly leads to an unusually large head size (macrocephaly), which is typically evident at birth. After birth, the brain and head continue to grow at a fast rate for the first few years of life; then, the growth slows to a normal rate, although the head remains larger than average. Additional brain abnormalities are common in people with MCAP; these can include excess fluid within the brain (hydrocephalus) and abnormalities in the brain&#x27;s structure, such as those known as Chiari malformation and polymicrogyria. Abnormal brain development leads to intellectual disability in most affected individuals and can also cause seizures or weak muscle tone (hypotonia). In particular, polymicrogyria is associated with speech delays and difficulty chewing and swallowing.</p><p>The capillary malformations characteristic of MCAP are composed of enlarged capillaries that increase blood flow near the surface of the skin. These malformations usually look like pink or red spots on the skin. In most affected individuals, capillary malformations occur on the face, particularly the nose, the upper lip, and the area between the nose and upper lip (the philtrum). In other people with MCAP, the malformations appear as patches spread over the body or as a reddish net-like pattern on the skin (cutis marmorata).</p><p>In some people with MCAP, excessive growth affects not only the brain but other individual parts of the body, which is known as segmental overgrowth. This can lead to one arm or leg that is bigger or longer than the other or a few oversized fingers or toes. Some affected individuals have fusion of the skin between two or more fingers or toes (cutaneous syndactyly).</p><p>Additional features of MCAP can include flexible joints and skin that stretches easily. Some affected individuals are said to have doughy skin because the tissue under the skin is unusually thick and soft.</p><p>The gene involved in MCAP is also associated with several types of cancer. Only a small number of individuals with MCAP have developed tumors (in particular, a childhood form of kidney cancer known as Wilms tumor and noncancerous tumors in the nervous system known as meningiomas).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/megalencephaly-capillary-malformation-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"megalencephaly-capillary-malformation-syndrome","sourceDocuments":[{"name":"Megalencephaly-capillary malformation syndrome","reviewed":"2014-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:13.076789+00:00","label":"Causes","pageSha256":"6b5dec685285daa164a82acd80ae778b47bb5393fbc511250485a4bef81b6a12","sourceUrl":"https://medlineplus.gov/genetics/condition/megalencephaly-capillary-malformation-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/megalencephaly-capillary-malformation-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":"Megalencephaly-capillary malformation syndrome"},"schemaVersion":1}