{"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:0010156/OMIM:275900","label":"Spastic paraplegia 20, autosomal recessive","mondoId":"MONDO:0010156","onsetQualifier":null,"recordKeys":["0169a18b672965d10f734b4f475f391a6eb328d3451537ed3050c18a34c27f80","02da9e0020185839ff46f5217e444eb70c0f8a565e790664dd6d6e950926813b","091abfa78f481ae55e554fa4fba549317d13881ff89ed946a276df5e8cfaf632","0ce7bb114d4e85fc0c74b2867c34eba05f0fdeab0824365865ed94ca1abde6f8","11b8cdf46ec587ba5a87851c5af22f51efbc7947d372b49ea194eb13833885c2","1a550758fa798e1c5a2c6216f943602d0e9f66d6140b2bdc0ad4a720a8cb4770","1ff6291f87aa72833d64bd86a0d6cd81f6e70c1c74a5d8d148fc39051b0963b1","207ac0ac4806c459fc96753139538f015f970a5a0ad7d5a7cde61b3841f7092a","2ef27479cd2fc21ac68dff04dfc0c24a82f10655189af73efe82b579b1c32ae6","2f59ef80c0a90ed7b607f3a109c657eda35638638a0f4081cd6ad8dba907cda4","309440d23a70ebea61c0204f60393f133aba4ee596fb03082175f0a40c501128","434924aa3ec592366a8076c711a920f5168eff455fc140432007332651604f9a","4828814800353e41aa44334f1de0b0f6516257ec60d055270e2d3afb6b7ccdf2","4d15944369d700b27a6ed9854974b4f3d303e64ef3c2f0c184ca04e4d637c9e6","5188166c22eaeb6a2da6c378fc7bed41029cba07261198964f768acec5154562","52e051c3592d31204e17eb3a7a4c1af57c454ffb8710c291a61858d87d4b3f23","6796ed76e9e43d587d2e4b8d62d19302d5267c28ef1668ba52535aee8512b1b2","6f1d596f1abf1388360cd0840e24ee57b04c6100654063646fc1a9fc053545bd","7525f348583600e5df7140b05d96ecec5b42283979ead449bca123ab516a9b1a","7915ae5b6edd1da549e35e7409bef11851e310cc7523b1c54c113309cb3870b3","8720f0fca800e2d93c85754b93aa2769f1257d5b44237d1c2fb04c72a6872dea","8f3bd9f74ada3acc7592dc25c87a21b73d3e86915f581e603ef326769d562005","93e456fb334c9733a4924c18707babdabc8c3ca1def0a5e0afc800e234b158a2","9cc1d85a3ee5c05851028b3c77ab14ab9706405e42f64aef11a8b8dd6c6d4617","9edf2dcc104aa97a6898dd44f5e8ca2d2bea553f063a6a81246a72c8b92e1c3e","a9737cfdb8f84a55c0f6c1d245d98e3aff9686db094794dbf62e6868c1d9af05","abb5b2d870fc6dccdb2e43c7f784d03845dbdc94738fe677eeac95dcc7fcaf18","b34aa9317ae0b893597db47e2be40be015d72e72e32fc5c57137b2d1b4efd21d","ba84435a5ba674d4e5bc88a0a6e48ea009f76888dab8528d514d186ea9c24295","bb2c2a730030b05f1563cf78b56a9483782d91b10dbb71e848e7fcc37de80e25","c8026c968cab88a1f40199a82bee2eb4ebf34b8469f18a83c32f32c68436104f","c86e6595d6d16ea9de01389d19a688eaafb750925383101fd795353fd0d29517","d21153c07fb6d38efe953e68e9190e0f1e942f47bd911737f60bd8dd4630eba2","e22ee7605f2625d6951859bc7eed22dfb24e9e64d96e30c50d119c376d024169","e41df1d77bdc2bdcbf25ec58cbc599ca3024637440a9340eb00ec3a3f8297b40","e59cdde3cde053d5de05e8a25c1a10c5292ea87407d8c3116cd0f3bf270c413b","e7a40f6ec835ba510b3ce146f6fbbda4261f474081c7862a68ef51b8f75bedcb","e925f09a6fd56a38bd158ebb7bd110fb1e67da00895904a362ffd75b48c773c6","f1aafb2168d9199136a740f43190fff2c9a10e19bb5482e4bbc89451e5418206"],"recordQualifiers":{},"scopeLabel":"OMIM:275900","sourceIds":["OMIM:275900"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010156/ORPHA:101000","label":"Autosomal recessive spastic paraplegia type 20","mondoId":"MONDO:0010156","onsetQualifier":null,"recordKeys":["029ebad9283dc9c5397b3c6c208b9b73ec8340f25d2cc115b5a2331622c195da","04803698ed8ea6d3d6d7faedf6ce8087e9badec81e9d98a806a1b4239338f543","056dded6d33d02c6f212bcaea82a4307ad976612cb24154ea0ce631b2450299a","05b477b29835c0b2dc00d80ed370720c6396890e144bc73780889bbba15adfcb","0ce0c73d1216bfcbe15550e20449bce5e022197032da9479b1c8d6fc53d7bd10","0cf9d5596316505b620ad7001b156b0d89178bf7bd8b0e61ca819e88aff441e5","0d29a3ba62bc20af968205ff126f5eeb6adfd560638a351dd162a8866e915dc6","1299515f31dd879f727e2558618b6d3aececb4aaf90a9599ad4acace9f83098a","187fbc3c4c3c3e7c133492d78e96f9ee322f44e0cd573da7069f9df6a22fab0d","1c7f780911a8f226e029adda73ed64c8e5c6500c9c8fedad5077f9f54978eda8","22de326f9e284fea715f870d4d186ba41db04e1902e159322f9f0ca2062a8a27","28f2f967734e7d2c543725b1e2323b2882dbf7729752490a273aaf722cdc515c","30ff2b7a237d14090c7eca6670b001771e9e3181e3c3f38f9c79dd422a7897f4","320190482ebda4fdd36bb023dea6b5ed7a9eb6c9f490acfc65eb413f15f075cf","3dba8a8fbec7b0cb9fe77478f8ce18b42d078f0993f74ea104580a35223bb036","400bd1b09a4d3a1a5444c9da98ca46103c1fe49d9ba75d99ef334b2e47441a5e","4c47ad9f19a2a31d736d586dd6054af7881c6aa10736fb577fb1a4cb3177bb85","5a1d9d28a9387212ba9720b89007c10036ad467e7d6ed8f3a559a65345124473","5aad226b6b78a923423d2dffea8b56835b7cb46bd3b043207f4e387bf9ecf598","6cf5394a36443d137eef51e3c112eca12b4ef00f466b7d721c3c660371e79bee","6ed36c5fd04a716b55a8b24cbe257b8e5431f2f2a7bd0840648301eb5ece2c14","6f536bf5b91d5dde003d6d1e73cf408e5173ed393c8201dcaf7e0d2f1c9661d0","76c1705ff477392503432151e0c73116ece931a5a45a673b8f4bf7c438a16bcb","7750b3d864789eff64687ddbbb073cbef4caefdc7a05374bba70590cf185c3b5","7790438caf23b98850fc53ceca3bbe13ebd8b371de5279e7464fe047459af2b0","7b46500200bb2c0c20bc77a8edfeeb77492cc0dc8fee107e2068b4e923f7c9e0","7cef8bff0f3d004ae76183f0f5874b0a4988f6d4a954e9d10066d4bb59f07261","7d0621a9bce6b1f2d4509f90a020946c47ee8521e351ba9c356f5e74cc145583","7d0d617b189e4a9a6b34d4a24221d7e79714ae6f08977f0e0d1b440fca83db19","82c9ca7a74279f5e98b0d0d94b49daed27ce1dac4b85a3e43eba037aeb860734","84358ebab8fd65059c46b305d4e10e22a81004f7c2edd81493bb41d08c1717da","9236b60ba458d47357d0b81765f42a83bda19302dfc59df0d64284a5c000cb1f","9b8e44cd69241ab39e45b455083a8f6842bc77905e552fce864a927b0525925d","9f151ad9d6601da7c8ffd36a1718e4b7f071e759e3df056c3c4df0d26a8cc2a1","a129fa157d725dc5d729befee5133e8c494412ae457110155cb5d967044d0f65","a382a7249904b4d767039a28c77b408087d8446b4667bed619d4853c80291d8e","aaa699487cc70e3cae38872a8ecee2d9721391acc436182365dcb55bad172478","b0f3767dfd66cc99e38ae20990639d1ac0cfb7467d26a04f111e998fed96c659","c109af07c2ab262bcbad9b37ba349e26b2fb4cbadaeab6cc4d1bff97422a6f89","cc22e627bc3284140b48b63a75d3d817118a1f12a4df40e1702ec766252ed931","d29ac7845c036a9561c68cd064d84610a76e74cc972755f06617f072d9fadb80","d99300df151f866aa3cd40d3b8c65df160e1c23cc100efd058640cd8f99e666c","db856c28110e67ee61723f1648e9a342731adcb41e13e06e18d5e33e23b0eb52","dd60ab0aa0906bfd14c5fc96ae3c9e845fa94f8a6bc749c2d417e1095e003c0d","df6e45ba16a2f0a7e5bc95384a90e9fd2a37007c2619b77f26b16498bf0cd88e","dfafb503b8a25446c92fb06328f3c3ed4cfa84ca6c8ef0dbb73df27874705d6f","dfd3e65ab31717f32763355a190d33c46908ee6c2329ae4cc328d3f9ee232178","e9882da2e22fbbe6521081e732c3982ca586039a278ec4bf7dde5f82c22d1da7","ea1138af1e72f955edb2fb914acf2ae3c25c80d226dac9649b20a9516410a819","f12c9ec5205e828bff068f62875b79b65b395dc4a982b0b0749026ce11d81336","f516fb27f3a7027d9833e7fe979dce1871c52ab4cf1e852cefe37e347bee71d5","f7b13e4e111cd0536808d7e58f0ef857d04fce7993e27dd2b58b3ee125f8e90c"],"recordQualifiers":{},"scopeLabel":"ORPHA:101000","sourceIds":["ORPHA:101000"],"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:0010156/OMIM:275900","MONDO:0010156/ORPHA:101000"],"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":20,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":91,"sourceGroups":{"omim":18,"orphanet":52,"published":21}},"features":[{"hpoId":"HP:0012443","label":"Abnormal brain morphology","primary":false},{"hpoId":"HP:0001317","label":"Abnormal cerebellum morphology","primary":false},{"hpoId":"HP:0001760","label":"Abnormal foot morphology","primary":false},{"hpoId":"HP:0005922","label":"Abnormal hand morphology","primary":false},{"hpoId":"HP:0005288","label":"Abnormal nostril morphology","primary":false},{"hpoId":"HP:0001172","label":"Abnormal thumb morphology","primary":false},{"hpoId":"HP:0001155","label":"Abnormality of the hand","primary":false},{"hpoId":"HP:0000924","label":"Abnormality of the skeletal system","primary":false},{"hpoId":"HP:0011448","label":"Ankle clonus","primary":false},{"hpoId":"HP:0000739","label":"Anxiety","primary":false},{"hpoId":"HP:0003487","label":"Babinski sign","primary":false},{"hpoId":"HP:0001156","label":"Brachydactyly","primary":false},{"hpoId":"HP:0012385","label":"Camptodactyly","primary":false},{"hpoId":"HP:0001272","label":"Cerebellar atrophy","primary":false},{"hpoId":"HP:0012450","label":"Chronic constipation","primary":false},{"hpoId":"HP:0030084","label":"Clinodactyly","primary":false},{"hpoId":"HP:0100543","label":"Cognitive impairment","primary":false},{"hpoId":"HP:0002019","label":"Constipation","primary":false},{"hpoId":"HP:0000750","label":"Delayed speech and language","primary":false},{"hpoId":"HP:0003693","label":"Distal amyotrophy","primary":false},{"hpoId":"HP:0000494","label":"Downslanted palpebral fissures","primary":false},{"hpoId":"HP:0002307","label":"Drooling","primary":false},{"hpoId":"HP:0001260","label":"Dysarthria","primary":false},{"hpoId":"HP:0001310","label":"Dysmetria","primary":false},{"hpoId":"HP:0002015","label":"Dysphagia","primary":false},{"hpoId":"HP:0100518","label":"Dysuria","primary":false},{"hpoId":"HP:0000712","label":"Emotional lability","primary":false},{"hpoId":"HP:0000286","label":"Epicanthus","primary":false},{"hpoId":"HP:0001371","label":"Flexion contracture","primary":false},{"hpoId":"HP:0001288","label":"Gait disturbance","primary":false},{"hpoId":"HP:0001290","label":"Generalized hypotonia","primary":false},{"hpoId":"HP:0002857","label":"Genu valgum","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0001510","label":"Growth delay","primary":false},{"hpoId":"HP:0000738","label":"Hallucinations","primary":false},{"hpoId":"HP:0001765","label":"Hammertoe","primary":false},{"hpoId":"HP:0001609","label":"Hoarse voice","primary":false},{"hpoId":"HP:0000126","label":"Hydronephrosis","primary":false},{"hpoId":"HP:0005639","label":"Hyperextensible hand joints","primary":false},{"hpoId":"HP:0012371","label":"Hyperplasia of midface","primary":false},{"hpoId":"HP:0001347","label":"Hyperreflexia","primary":false},{"hpoId":"HP:0000316","label":"Hypertelorism","primary":false},{"hpoId":"HP:0006938","label":"Impaired vibration sensation at ankles","primary":false},{"hpoId":"HP:0002495","label":"Impaired vibratory sensation","primary":false},{"hpoId":"HP:0011094","label":"Increased overbite","primary":false},{"hpoId":"HP:0001382","label":"Joint hypermobility","primary":false},{"hpoId":"HP:0011449","label":"Knee clonus","primary":false},{"hpoId":"HP:0002751","label":"Kyphoscoliosis","primary":false},{"hpoId":"HP:0000369","label":"Low-set ears","primary":false},{"hpoId":"HP:0007340","label":"Lower limb muscle weakness","primary":false},{"hpoId":"HP:0002061","label":"Lower limb spasticity","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0001256","label":"Mild intellectual disability","primary":false},{"hpoId":"HP:0001270","label":"Motor delay","primary":false},{"hpoId":"HP:0000639","label":"Nystagmus","primary":false},{"hpoId":"HP:0025269","label":"Panic attack","primary":false},{"hpoId":"HP:0001761","label":"Pes cavus","primary":false},{"hpoId":"HP:0000448","label":"Prominent nose","primary":false},{"hpoId":"HP:0000709","label":"Psychosis","primary":false},{"hpoId":"HP:0001773","label":"Short foot","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0003202","label":"Skeletal muscle atrophy","primary":false},{"hpoId":"HP:0002360","label":"Sleep disturbance","primary":false},{"hpoId":"HP:0001350","label":"Slurred speech","primary":false},{"hpoId":"HP:0002464","label":"Spastic dysarthria","primary":false},{"hpoId":"HP:0002064","label":"Spastic gait","primary":false},{"hpoId":"HP:0002313","label":"Spastic paraparesis","primary":false},{"hpoId":"HP:0001258","label":"Spastic paraplegia","primary":false},{"hpoId":"HP:0001257","label":"Spasticity","primary":false},{"hpoId":"HP:0001328","label":"Specific learning disability","primary":false},{"hpoId":"HP:0011098","label":"Speech apraxia","primary":false},{"hpoId":"HP:0009487","label":"Ulnar deviation of the hand","primary":false},{"hpoId":"HP:0003484","label":"Upper limb muscle weakness","primary":false},{"hpoId":"HP:0006986","label":"Upper limb spasticity","primary":false},{"hpoId":"HP:0000012","label":"Urinary urgency","primary":false}],"ledeHtml":"Troyer syndrome is a type of hereditary spastic paraplegia, also called hereditary spastic paraparesis. Hereditary spastic paraplegias are a group of genetic disorders characterized by progressive stiffness (spasticity) and weakness of the leg muscles. The degree of leg weakness in people with hereditary spastic paraplegia can vary. Paraparesis is the term used to describe leg weakness, while paraplegia refers to severe weakness of the leg muscles.","mondoId":"MONDO:0010156","records":[{"frequencyKind":"reported","key":"0169a18b672965d10f734b4f475f391a6eb328d3451537ed3050c18a34c27f80","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001317","is_excluded":false,"label":"Abnormal cerebellum morphology","onset_id":null,"reference":"OMIM:275900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"029ebad9283dc9c5397b3c6c208b9b73ec8340f25d2cc115b5a2331622c195da","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001317","is_excluded":false,"label":"Abnormal cerebellum morphology","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"02da9e0020185839ff46f5217e444eb70c0f8a565e790664dd6d6e950926813b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002307","is_excluded":false,"label":"Drooling","onset_id":null,"reference":"OMIM:275900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"04803698ed8ea6d3d6d7faedf6ce8087e9badec81e9d98a806a1b4239338f543","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001172","is_excluded":false,"label":"Abnormal thumb morphology","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"056dded6d33d02c6f212bcaea82a4307ad976612cb24154ea0ce631b2450299a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003693","is_excluded":false,"label":"Distal amyotrophy","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"05b477b29835c0b2dc00d80ed370720c6396890e144bc73780889bbba15adfcb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003484","is_excluded":false,"label":"Upper limb muscle weakness","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"091abfa78f481ae55e554fa4fba549317d13881ff89ed946a276df5e8cfaf632","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0012450","is_excluded":false,"label":"Chronic constipation","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"0ce0c73d1216bfcbe15550e20449bce5e022197032da9479b1c8d6fc53d7bd10","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001350","is_excluded":false,"label":"Slurred speech","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"0ce7bb114d4e85fc0c74b2867c34eba05f0fdeab0824365865ed94ca1abde6f8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000712","is_excluded":false,"label":"Emotional lability","onset_id":null,"reference":"OMIM:275900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"0cf9d5596316505b620ad7001b156b0d89178bf7bd8b0e61ca819e88aff441e5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0d29a3ba62bc20af968205ff126f5eeb6adfd560638a351dd162a8866e915dc6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002857","is_excluded":false,"label":"Genu valgum","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"11b8cdf46ec587ba5a87851c5af22f51efbc7947d372b49ea194eb13833885c2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001156","is_excluded":false,"label":"Brachydactyly","onset_id":null,"reference":"OMIM:275900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"1299515f31dd879f727e2558618b6d3aececb4aaf90a9599ad4acace9f83098a","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000126","is_excluded":false,"label":"Hydronephrosis","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"187fbc3c4c3c3e7c133492d78e96f9ee322f44e0cd573da7069f9df6a22fab0d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005922","is_excluded":false,"label":"Abnormal hand morphology","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"1a550758fa798e1c5a2c6216f943602d0e9f66d6140b2bdc0ad4a720a8cb4770","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1c7f780911a8f226e029adda73ed64c8e5c6500c9c8fedad5077f9f54978eda8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003487","is_excluded":false,"label":"Babinski sign","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"1ff6291f87aa72833d64bd86a0d6cd81f6e70c1c74a5d8d148fc39051b0963b1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001258","is_excluded":false,"label":"Spastic paraplegia","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"207ac0ac4806c459fc96753139538f015f970a5a0ad7d5a7cde61b3841f7092a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"22de326f9e284fea715f870d4d186ba41db04e1902e159322f9f0ca2062a8a27","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"28f2f967734e7d2c543725b1e2323b2882dbf7729752490a273aaf722cdc515c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011094","is_excluded":false,"label":"Increased overbite","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"2ef27479cd2fc21ac68dff04dfc0c24a82f10655189af73efe82b579b1c32ae6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002061","is_excluded":false,"label":"Lower limb spasticity","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"2f59ef80c0a90ed7b607f3a109c657eda35638638a0f4081cd6ad8dba907cda4","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"OMIM:275900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"309440d23a70ebea61c0204f60393f133aba4ee596fb03082175f0a40c501128","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011449","is_excluded":false,"label":"Knee clonus","onset_id":null,"reference":"OMIM:275900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"30ff2b7a237d14090c7eca6670b001771e9e3181e3c3f38f9c79dd422a7897f4","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002019","is_excluded":false,"label":"Constipation","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"320190482ebda4fdd36bb023dea6b5ed7a9eb6c9f490acfc65eb413f15f075cf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001328","is_excluded":false,"label":"Specific learning disability","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3dba8a8fbec7b0cb9fe77478f8ce18b42d078f0993f74ea104580a35223bb036","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012443","is_excluded":false,"label":"Abnormal brain morphology","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"400bd1b09a4d3a1a5444c9da98ca46103c1fe49d9ba75d99ef334b2e47441a5e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002464","is_excluded":false,"label":"Spastic dysarthria","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"434924aa3ec592366a8076c711a920f5168eff455fc140432007332651604f9a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002015","is_excluded":false,"label":"Dysphagia","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"4828814800353e41aa44334f1de0b0f6516257ec60d055270e2d3afb6b7ccdf2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0030084","is_excluded":false,"label":"Clinodactyly","onset_id":null,"reference":"OMIM:275900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"4c47ad9f19a2a31d736d586dd6054af7881c6aa10736fb577fb1a4cb3177bb85","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4d15944369d700b27a6ed9854974b4f3d303e64ef3c2f0c184ca04e4d637c9e6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001371","is_excluded":false,"label":"Flexion contracture","onset_id":null,"reference":"OMIM:275900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5188166c22eaeb6a2da6c378fc7bed41029cba07261198964f768acec5154562","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0012371","is_excluded":false,"label":"Hyperplasia of midface","onset_id":null,"reference":"OMIM:275900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"52e051c3592d31204e17eb3a7a4c1af57c454ffb8710c291a61858d87d4b3f23","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001347","is_excluded":false,"label":"Hyperreflexia","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5a1d9d28a9387212ba9720b89007c10036ad467e7d6ed8f3a559a65345124473","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001347","is_excluded":false,"label":"Hyperreflexia","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5aad226b6b78a923423d2dffea8b56835b7cb46bd3b043207f4e387bf9ecf598","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000739","is_excluded":false,"label":"Anxiety","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"6796ed76e9e43d587d2e4b8d62d19302d5267c28ef1668ba52535aee8512b1b2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0003693","is_excluded":false,"label":"Distal amyotrophy","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6cf5394a36443d137eef51e3c112eca12b4ef00f466b7d721c3c660371e79bee","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011098","is_excluded":false,"label":"Speech apraxia","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6ed36c5fd04a716b55a8b24cbe257b8e5431f2f2a7bd0840648301eb5ece2c14","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"6f1d596f1abf1388360cd0840e24ee57b04c6100654063646fc1a9fc053545bd","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0012385","is_excluded":false,"label":"Camptodactyly","onset_id":null,"reference":"OMIM:275900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"6f536bf5b91d5dde003d6d1e73cf408e5173ed393c8201dcaf7e0d2f1c9661d0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7525f348583600e5df7140b05d96ecec5b42283979ead449bca123ab516a9b1a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002751","is_excluded":false,"label":"Kyphoscoliosis","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"76c1705ff477392503432151e0c73116ece931a5a45a673b8f4bf7c438a16bcb","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000286","is_excluded":false,"label":"Epicanthus","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7750b3d864789eff64687ddbbb073cbef4caefdc7a05374bba70590cf185c3b5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100543","is_excluded":false,"label":"Cognitive impairment","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7790438caf23b98850fc53ceca3bbe13ebd8b371de5279e7464fe047459af2b0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001155","is_excluded":false,"label":"Abnormality of the hand","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7915ae5b6edd1da549e35e7409bef11851e310cc7523b1c54c113309cb3870b3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0006938","is_excluded":false,"label":"Impaired vibration sensation at ankles","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7b46500200bb2c0c20bc77a8edfeeb77492cc0dc8fee107e2068b4e923f7c9e0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000924","is_excluded":false,"label":"Abnormality of the skeletal system","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7cef8bff0f3d004ae76183f0f5874b0a4988f6d4a954e9d10066d4bb59f07261","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001609","is_excluded":false,"label":"Hoarse voice","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7d0621a9bce6b1f2d4509f90a020946c47ee8521e351ba9c356f5e74cc145583","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003202","is_excluded":false,"label":"Skeletal muscle atrophy","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7d0d617b189e4a9a6b34d4a24221d7e79714ae6f08977f0e0d1b440fca83db19","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002064","is_excluded":false,"label":"Spastic gait","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"82c9ca7a74279f5e98b0d0d94b49daed27ce1dac4b85a3e43eba037aeb860734","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0030084","is_excluded":false,"label":"Clinodactyly","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"84358ebab8fd65059c46b305d4e10e22a81004f7c2edd81493bb41d08c1717da","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0025269","is_excluded":false,"label":"Panic attack","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8720f0fca800e2d93c85754b93aa2769f1257d5b44237d1c2fb04c72a6872dea","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011448","is_excluded":false,"label":"Ankle clonus","onset_id":null,"reference":"OMIM:275900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8f3bd9f74ada3acc7592dc25c87a21b73d3e86915f581e603ef326769d562005","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0003487","is_excluded":false,"label":"Babinski sign","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"9236b60ba458d47357d0b81765f42a83bda19302dfc59df0d64284a5c000cb1f","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"93e456fb334c9733a4924c18707babdabc8c3ca1def0a5e0afc800e234b158a2","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"OMIM:275900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9b8e44cd69241ab39e45b455083a8f6842bc77905e552fce864a927b0525925d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011448","is_excluded":false,"label":"Ankle clonus","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9cc1d85a3ee5c05851028b3c77ab14ab9706405e42f64aef11a8b8dd6c6d4617","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"0/2","hpo_id":"HP:0000639","is_excluded":true,"label":"Nystagmus","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"9edf2dcc104aa97a6898dd44f5e8ca2d2bea553f063a6a81246a72c8b92e1c3e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001765","is_excluded":false,"label":"Hammertoe","onset_id":null,"reference":"OMIM:275900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9f151ad9d6601da7c8ffd36a1718e4b7f071e759e3df056c3c4df0d26a8cc2a1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002313","is_excluded":false,"label":"Spastic paraparesis","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a129fa157d725dc5d729befee5133e8c494412ae457110155cb5d967044d0f65","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000448","is_excluded":false,"label":"Prominent nose","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a382a7249904b4d767039a28c77b408087d8446b4667bed619d4853c80291d8e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001761","is_excluded":false,"label":"Pes cavus","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a9737cfdb8f84a55c0f6c1d245d98e3aff9686db094794dbf62e6868c1d9af05","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001310","is_excluded":false,"label":"Dysmetria","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"aaa699487cc70e3cae38872a8ecee2d9721391acc436182365dcb55bad172478","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"abb5b2d870fc6dccdb2e43c7f784d03845dbdc94738fe677eeac95dcc7fcaf18","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0007340","is_excluded":false,"label":"Lower limb muscle weakness","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b0f3767dfd66cc99e38ae20990639d1ac0cfb7467d26a04f111e998fed96c659","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b34aa9317ae0b893597db47e2be40be015d72e72e32fc5c57137b2d1b4efd21d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002064","is_excluded":false,"label":"Spastic gait","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ba84435a5ba674d4e5bc88a0a6e48ea009f76888dab8528d514d186ea9c24295","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001773","is_excluded":false,"label":"Short foot","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"bb2c2a730030b05f1563cf78b56a9483782d91b10dbb71e848e7fcc37de80e25","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002313","is_excluded":false,"label":"Spastic paraparesis","onset_id":null,"reference":"OMIM:275900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c109af07c2ab262bcbad9b37ba349e26b2fb4cbadaeab6cc4d1bff97422a6f89","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c8026c968cab88a1f40199a82bee2eb4ebf34b8469f18a83c32f32c68436104f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001761","is_excluded":false,"label":"Pes cavus","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"c86e6595d6d16ea9de01389d19a688eaafb750925383101fd795353fd0d29517","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"OMIM:275900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"cc22e627bc3284140b48b63a75d3d817118a1f12a4df40e1702ec766252ed931","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002360","is_excluded":false,"label":"Sleep disturbance","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d21153c07fb6d38efe953e68e9190e0f1e942f47bd911737f60bd8dd4630eba2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0009487","is_excluded":false,"label":"Ulnar deviation of the hand","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d29ac7845c036a9561c68cd064d84610a76e74cc972755f06617f072d9fadb80","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d99300df151f866aa3cd40d3b8c65df160e1c23cc100efd058640cd8f99e666c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"db856c28110e67ee61723f1648e9a342731adcb41e13e06e18d5e33e23b0eb52","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"dd60ab0aa0906bfd14c5fc96ae3c9e845fa94f8a6bc749c2d417e1095e003c0d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000712","is_excluded":false,"label":"Emotional lability","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"df6e45ba16a2f0a7e5bc95384a90e9fd2a37007c2619b77f26b16498bf0cd88e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0005288","is_excluded":false,"label":"Abnormal nostril morphology","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"dfafb503b8a25446c92fb06328f3c3ed4cfa84ca6c8ef0dbb73df27874705d6f","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100518","is_excluded":false,"label":"Dysuria","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"dfd3e65ab31717f32763355a190d33c46908ee6c2329ae4cc328d3f9ee232178","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001290","is_excluded":false,"label":"Generalized hypotonia","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e22ee7605f2625d6951859bc7eed22dfb24e9e64d96e30c50d119c376d024169","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0005639","is_excluded":false,"label":"Hyperextensible hand joints","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"e41df1d77bdc2bdcbf25ec58cbc599ca3024637440a9340eb00ec3a3f8297b40","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001272","is_excluded":false,"label":"Cerebellar atrophy","onset_id":null,"reference":"OMIM:275900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"e59cdde3cde053d5de05e8a25c1a10c5292ea87407d8c3116cd0f3bf270c413b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001256","is_excluded":false,"label":"Mild intellectual disability","onset_id":null,"reference":"PMID:18413476","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"e7a40f6ec835ba510b3ce146f6fbbda4261f474081c7862a68ef51b8f75bedcb","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000012","is_excluded":false,"label":"Urinary urgency","onset_id":null,"reference":"PMID:20301556","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"e925f09a6fd56a38bd158ebb7bd110fb1e67da00895904a362ffd75b48c773c6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001288","is_excluded":false,"label":"Gait disturbance","onset_id":null,"reference":"OMIM:275900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e9882da2e22fbbe6521081e732c3982ca586039a278ec4bf7dde5f82c22d1da7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000709","is_excluded":false,"label":"Psychosis","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ea1138af1e72f955edb2fb914acf2ae3c25c80d226dac9649b20a9516410a819","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002015","is_excluded":false,"label":"Dysphagia","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f12c9ec5205e828bff068f62875b79b65b395dc4a982b0b0749026ce11d81336","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002495","is_excluded":false,"label":"Impaired vibratory sensation","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f1aafb2168d9199136a740f43190fff2c9a10e19bb5482e4bbc89451e5418206","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:275900","disease_name":"Spastic paraplegia 20, autosomal recessive","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0006986","is_excluded":false,"label":"Upper limb spasticity","onset_id":null,"reference":"OMIM:275900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f516fb27f3a7027d9833e7fe979dce1871c52ab4cf1e852cefe37e347bee71d5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000738","is_excluded":false,"label":"Hallucinations","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f7b13e4e111cd0536808d7e58f0ef857d04fce7993e27dd2b58b3ee125f8e90c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:101000","disease_name":"Autosomal recessive spastic paraplegia type 20","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001760","is_excluded":false,"label":"Abnormal foot morphology","onset_id":null,"reference":"ORPHA:101000","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/troyer-syndrome\">Troyer 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>Some variants (also called mutations) in the SPART gene have been found to cause Troyer syndrome. The SPART gene provides instructions for producing a protein called spartin. Spartin is found in a number of body tissues, including the brain. Researchers believe that spartin may be involved in regulating the size and number of lipid droplets inside the cell. Specifically, spartin may be involved in delivering lipid droplets to the cell&#x27;s recycling center. Lipid droplets help cells use and store fats, which are an important energy source.</p><p>Spartin also plays a role in other cell activities. Spartin may play a role in regulating the activity of endosomes, which are structures inside the cell that are involved in sorting, transporting, and recycling proteins and other materials. Spartin may also play a role in mitochondrial function. Mitochondria are the energy-producing centers inside the cell.</p><p>The variants that cause Troyer syndrome reduce the amount of functioning protein inside the cell. Cells that do not have enough normal spartin cannot break down lipid droplets properly, which allows fat molecules to build up inside the cell. Researchers are investigating how variants in the SPART gene cause the specific signs and symptoms of Troyer syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/troyer-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Troyer syndrome?"},{"bodyHtml":"<p>Hereditary spastic paraplegias are divided into two types: pure and complex (sometimes called uncomplicated and complicated). The pure types of hereditary spastic paraplegia involve the legs and the bladder. Complex hereditary spastic paraplegias may include additional signs and symptoms such as intellectual disabilities, problems with coordination and balance (ataxia), and damage to the nerves that connect the brain and spinal cord to the rest of the body (peripheral neuropathy). Troyer syndrome is a complex hereditary spastic paraplegia.</p><p>People with Troyer syndrome can experience a variety of signs and symptoms. These health problems typically begin in early childhood and slowly worsen over time. Common features of Troyer syndrome include delays in learning to walk and talk, progressive weakness and spasticity of the leg muscles, muscle wasting in the hands and feet (distal amyotrophy), and short stature. Affected individuals may also have speech difficulties (dysarthria), skeletal (bone) abnormalities, and mood swings.</p><p>Troyer syndrome causes the breakdown (degeneration) and death of muscle cells and motor neurons (specialized nerve cells that control muscle movement) throughout a person&#x27;s lifetime, leading to a slow decline in muscle and nerve function. Most affected individuals require wheelchair assistance by the time they are in their 50s or 60s. Troyer syndrome generally does not affect a person&#x27;s life expectancy.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/troyer-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"troyer-syndrome","sourceDocuments":[{"name":"Troyer syndrome","reviewed":"2024-09","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:35.175870+00:00","label":"Causes","pageSha256":"d1c6cb8b84e0bbdf28eaac9f65cff7c7cb0b790e8a3fa181c900ac608a3c4f32","sourceUrl":"https://medlineplus.gov/genetics/condition/troyer-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/troyer-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":"Troyer syndrome"},"schemaVersion":1}