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It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0012904/OMIM:612437"],"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":9,"sourceGroups":{"omim":6,"orphanet":0,"published":3}},"features":[{"hpoId":"HP:0001251","label":"Ataxia (coordination difficulty)","primary":false},{"hpoId":"HP:0010819","label":"Atonic seizure","primary":false},{"hpoId":"HP:0003487","label":"Babinski sign","primary":false},{"hpoId":"HP:0001260","label":"Dysarthria","primary":false},{"hpoId":"HP:0001310","label":"Dysmetria","primary":false},{"hpoId":"HP:0002123","label":"Generalized myoclonic seizure","primary":false},{"hpoId":"HP:0001336","label":"Myoclonus","primary":false},{"hpoId":"HP:0003390","label":"Sensory axonal neuropathy","primary":false},{"hpoId":"HP:0001337","label":"Tremor","primary":false}],"ledeHtml":"PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare inherited condition characterized by recurrent seizures (epilepsy) and problems with movement. The signs and symptoms of this disorder usually begin between the ages of 5 and 10.","mondoId":"MONDO:0012904","records":[{"frequencyKind":"reported","key":"0e6b05558e7bdea9e0e0bed801e628b47d41cbc6c1341ed1d70a76ed40483869","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612437","disease_name":"Epilepsy, progressive myoclonic 1B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003487","is_excluded":false,"label":"Babinski sign","onset_id":null,"reference":"OMIM:612437","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"579ad405b53aeb3cddecf788df8feef2e61be2cd56b17524918b29a7653f9e4f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612437","disease_name":"Epilepsy, progressive myoclonic 1B","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001336","is_excluded":false,"label":"Myoclonus","onset_id":null,"reference":"PMID:18976727","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"5e7d9d64de3814feddf485e604abadcccb2954091ff0335debab275cdd662e9c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612437","disease_name":"Epilepsy, progressive myoclonic 1B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"OMIM:612437","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"60f76c6c69ffac6ee169505c1b9fe78a4ba9d3d6f78370848d08876e7e8feead","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612437","disease_name":"Epilepsy, progressive myoclonic 1B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003390","is_excluded":false,"label":"Sensory axonal neuropathy","onset_id":null,"reference":"OMIM:612437","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"73f402e838cf0c699c53750229bef6d27e0e86c268f1607f49e55ec5db2a663d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612437","disease_name":"Epilepsy, progressive myoclonic 1B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001310","is_excluded":false,"label":"Dysmetria","onset_id":null,"reference":"OMIM:612437","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"bffaa9a29b831999d6efd7a58165a5e0f1420863890e15b3391c54ad05119c2d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612437","disease_name":"Epilepsy, progressive myoclonic 1B","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001337","is_excluded":false,"label":"Tremor","onset_id":null,"reference":"OMIM:612437","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c16c0229f26fe10e8c508bc99ce25fb0f3f0df13202440fb4e942566837ed659","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612437","disease_name":"Epilepsy, progressive myoclonic 1B","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"PMID:18976727","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"c1c30e86446b71997cc9ec4696409a7b3a17828b496e18eb4797ac20069cb8d2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612437","disease_name":"Epilepsy, progressive myoclonic 1B","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002123","is_excluded":false,"label":"Generalized myoclonic seizure","onset_id":null,"reference":"PMID:18976727","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"dd4ed0fdecca434373195c2f932f17ca0815bb84baf6c37bd02ee4377ac42b57","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612437","disease_name":"Epilepsy, progressive myoclonic 1B","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0010819","is_excluded":false,"label":"Atonic seizure","onset_id":null,"reference":"OMIM:612437","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/prickle1-related-progressive-myoclonus-epilepsy-with-ataxia\">PRICKLE1-related progressive myoclonus epilepsy with ataxia</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>PRICKLE1-related progressive myoclonus epilepsy with ataxia is caused by mutations in the PRICKLE1 gene. This gene provides instructions for making a protein called prickle homolog 1, whose function is unknown. Studies suggest that it interacts with other proteins that are critical for brain development and function.</p><p>Mutations in the PRICKLE1 gene alter the structure of prickle homolog 1 and disrupt its ability to interact with other proteins. However, it is unclear how these changes lead to movement problems, seizures, and the other features of PRICKLE1-related progressive myoclonus epilepsy with ataxia.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/prickle1-related-progressive-myoclonus-epilepsy-with-ataxia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes PRICKLE1-related progressive myoclonus epilepsy with ataxia?"},{"bodyHtml":"<p>Problems with balance and coordination (ataxia) are usually the first symptoms of PRICKLE1-related progressive myoclonus epilepsy with ataxia. Affected children often have trouble walking. Their gait is unbalanced and wide-based, and they may fall frequently. Later, children with this condition develop episodes of involuntary muscle jerking or twitching (myoclonus), which cause additional problems with movement. Myoclonus can also affect muscles in the face, leading to difficulty swallowing and slurred speech (dysarthria).</p><p>Beginning later in childhood, some affected individuals develop tonic-clonic or grand mal seizures. These seizures involve a loss of consciousness, muscle rigidity, and convulsions. They often occur at night (nocturnally) while the person is sleeping.</p><p>PRICKLE1-related progressive myoclonus epilepsy with ataxia does not seem to affect intellectual ability. Although a few affected individuals have died in childhood, many have lived into adulthood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/prickle1-related-progressive-myoclonus-epilepsy-with-ataxia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"prickle1-related-progressive-myoclonus-epilepsy-with-ataxia","sourceDocuments":[{"name":"PRICKLE1-related progressive myoclonus epilepsy with ataxia","reviewed":"2011-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:22.422089+00:00","label":"Causes","pageSha256":"b627dca5b2cdd7073f7777924be9578e238735e0bf54abcd9bb0f8b0a7a491d2","sourceUrl":"https://medlineplus.gov/genetics/condition/prickle1-related-progressive-myoclonus-epilepsy-with-ataxia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/prickle1-related-progressive-myoclonus-epilepsy-with-ataxia"}],"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":"PRICKLE1-related progressive myoclonus epilepsy with ataxia"},"schemaVersion":1}