{"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:0007087/OMIM:104290","label":"Alternating hemiplegia of childhood 1","mondoId":"MONDO:0007087","onsetQualifier":null,"recordKeys":["26060231b6b2f60ce67ec8812ec77d3fad4d4ba04a62865d83b038cdab3b6cec","a1b46dc7542e0c10fb5be3f6cd75d6f4318e4bda0aaf13ce257e5e7f0c74db36","c05036b0dea578b3b92637f6167fbd00265914bea7819d479acfe7af32ea1b20","ca6ceb4f971296f0138e73c81df49712955cfde48fe7eced89547763f5c0e4f7","cd8ff373bd5e3c161aee099b9c684350ecbd42122b08dfd46354c61df88d8bc4","d65f5f98d76c963a2b4108d5fa5e3c9e928511e0eccc3bbd7d7f09eba1614f09","de157594000035de1eeb34b22f0a397e58f2b21173dee718d0b693211112c54e","ed5173cf75fa250196116372a0e2e1c106bc8cd4311131860a87e68959fe0d05","f91ff24b73642e744eddd42ab81741745d0caacd755c407b8d703f79737ddce2"],"recordQualifiers":{},"scopeLabel":"OMIM:104290","sourceIds":["OMIM:104290"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010264/OMIM:300200","label":"Adrenal hypoplasia, congenital","mondoId":"MONDO:0010264","onsetQualifier":null,"recordKeys":["0a4036237eda84e5f11eb0bee5623224aa97adace7e70591d1b27ce0410931a0","1481013b220f6e89c3f3d4da3d613207d469447e370ffc1d45aba88c0dbbb1ee","1c07cf1bace4724716dd36f61a9aafa9a581e748745d74a433d101b0c0c1f6ae","3b4ac05fce393ede42319a91f4fe864eca1d4ad576ddc26624d44c9625f20448","54b20d970d3e3fd278ba56415ba49c1c2cace90e92eb5ede86777b6ff1de67fa","636c65122c5746aed62173eb1ab5c27703e0de500d0bcd5e21b1a773cf3266c7","64d524d8ae8c481cfe1a5dbeff284c24ed75f337f8b00eaa2016258e6ce7bea7","665a4412332850ade332149fb8a48c41bd1c5013b6f93d1b29d89f40b670b1fd","6de9a5302c41af63d3abea0bcc2a496527c7ffdaf93aae6beff74d64190c3d85","6eb644de5612bdc0b6f722abd2278e82df79626c9b55266c8f577d17bb56ff32","702004d53d23c6bb8993336c196c1cb7fcb278147fb46ee6424c5ee22a3cc4f0","793d217446c83a153d5750cef35f0279b54cc717b033c667e628273690599298","7cdd98756e0d15af9c9a0307299aad477b2309d74eae91ab26e869381a99710b","a332187c58e75b8c3edb7db81ac3f8d83fc034e78dc22008da9ff3be07aca012","ad770866d734edd82b3214e964e98bdd42ddaf6f108c13f3b227eac39a14a04f","deb84ffa5a8bef8ef0c5d93a98ec98fdb8cd5f61f0385a8ce24619a92c39a83f","e1b09aca3177b18ff8f40a26c77d6fe9f3494456478d970638c0cfd24ae35e47","f56197f35822967af3ff844d419d7eaed091da377f3cb59bd8cf2c67bb1e2c41"],"recordQualifiers":{},"scopeLabel":"OMIM:300200","sourceIds":["OMIM:300200"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0013900/OMIM:614820","label":"Alternating hemiplegia of childhood 2","mondoId":"MONDO:0013900","onsetQualifier":null,"recordKeys":["05698dfefa9e350794ba69b4427805d718a8c9ada13b15b220373af87b0b7ec5","2cccdf189bd18db4efbd25df0180f89b7e18079fdd4036ffe2fb9c01611fb1ab","3ef5354dc6d44e495895407768c15bf92940c53e73a478bb1da3652d3fad1eb2","41bc3f9c9f4c8faf9da04a73d0cea55cb9933513a15ff4bcca602cee745a4931","541095eb30e434601639035ff447bcb37321f17a774f77acb9a55426434e07bf","8cc86c8a6d1dc9e3d4f4533a6cf3f048719defc39b4420658247904e6d360967","8d83e0718b6d2ac112c3164711482c310e7f2712e18d7cff5faf902771a0d53b","919ab66fcd54fce5b599b2dbfe9100d0b0a25a16af5df864519cd91a8994a9c9","a81a779cae42491193d76dfe674832d4c17c95c61df653b2d32932be95ccd581","c4e7357708390ea7af5b3d2984d890220edcd268a91ef5f656c52c9229a3eb53","d6e7186578b2f802ebd6c4d318aeec69d20b3e6bfb52e4af3d63a8b9767fc792","e8188dd7a81bf8534132bdf12137261b32b25c79ec04e5bad7d8174b367fdd58","f0489cc7ddeb5b35bff0ab59914a95dcfced694bbb51ade3feaab0da2cb3e256","fa71f1b847596d633180ca975ddb1349d2754cf5e453cf12b0745cf7b647cbdc"],"recordQualifiers":{},"scopeLabel":"OMIM:614820","sourceIds":["OMIM:614820"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0016241/ORPHA:2131","label":"Alternating hemiplegia of childhood","mondoId":"MONDO:0016241","onsetQualifier":null,"recordKeys":["00d4cbdb399d8c7da6a7427a9e5be5eb31bc97579296c289dd97bee8d2c9800d","0170c9621ede344a67e5dba88d3110a4740a8c07b5a1785a0f792514c8317f81","0418747d9de0edeeca0123c51a44c680c761a715d02f8bb05706b0beb3da7ffc","0f9a2ec0aebdd1331897a2bc9c1f185c3841e67beeb6d2b0b660ee0909a760b7","1240e40315a05039ed955b34dd533337d33c9b75f8b272e752f22c7500874e73","131d95a288d77bfcd6d838f9611728cc88ac344851b2ea68fd9ee37a2b6e2cdb","178b639582eeb35102c3a8a8ec115e6da60859041ef1237072e5e45d4c7d1b05","2154288c9085fa1f274ff6bc6ed24e6587103dcd4423607eb1279f583c4e6dad","25b0cc251d1309626ee56e32cf7d8083d1c630cdd95c027bb86fb717488fc2e8","2d8afad126b46c7967f43a7b04004f79de949cfd9b90dc8fcf631b5082246371","3209a5f09182ddbd45e26584d1ca644d602d928b2fdff89473ed3bd3e1993bea","34c922bfba2cab9d0aa4b91bbc9c202329af080fac536b8ddf1ae2675bbe202e","3d545e9aa36625a8f302d2a15ad577f60e0f5918cc82a42dcc81a4598225a116","420c8aac8e333029d19b57842bd6074997a8a70a31988fd7fc805b7212c9471b","452d692bad77e4f591cac78c764480bc44b983ea1127ef89f4bfa45a221822c9","4674bce2c58ff5f834979dcbfd61fd1d492fc2375f90f5449702794bf0ebe405","4dca946ec14641e99414b3ccc6d32638f55d1aee1e40496f15b1421d77963000","54e135d696d39acae9536a27245006b2298861b89927156c3e65b9f5056988f6","582ed8c32a74e36e85ceca5efe9d673bc4b6dc5dedf73a087fbc7dc1479f69f6","5c8095b05507fbda5a977258ec1c015b4a97081974f862c3ca1fb5dc7f074b8b","5e0567cd222c35a9853eca404ce482e57dfa882b73559b9e515390e17409e531","6223b8d15d38928c5e8760183888682d21a6cd96f6a08f13c03392612ca53953","6a49b701b8702898b17879235006e4aba964b581662b1e7844c6f7aa797fa75e","6d6b0b951d9242bcc98e35557eac79cb0c9d38b22d54bcf07d557a97ae3d3098","6de7d4c86876b419c34b49a70dd2a9c5181f403cc630010a6538cfda51b6b0a6","6e49b17831fa9c1d27049a5e3fee8ce402153dcfcea0be742e29cc0fa00827ee","7124555abb60c7840d04f48e9efcbc2a40407d6a72ba8ace645fefd359aeb29d","7e2b49082c667b7dd7a289159b5ad3036d647ae8b7a883a8ccb541553961a72c","7e498c94cca3f705094150eac9a84a64f41b471531262fe7c76c9c9136c922b3","82bc4a06b61e22a749881debc6ece478e3c710b9f96e5caf960b51e19acf640d","8849d4e74cf95b36c9a9e7a87f1c9a751e45986148fde021f4005e892b8241d1","8b69395c7000c2e302f53649f2691c1f4e37e5456a23386be9c99ded0838f909","96de7c8c0ced71276f11b8c31e4b4c7b922b39eb26bf047e71a7561bf6d68c2c","96edc14ef02f141ce2320e5823696d526107f631cf565023cb25ebdf5cd362bf","97fbf8eafc2e3e386106693e91d8fc788b95a3615d1b16310df88ca4511b31b2","a6a8c4b964a0f9768e72f9dd998c9f5670f4800670317013d1cc393e1c2a5eed","a7192baa4ff5730f536b485d5e0aa3bd1485e8ce64665507f8c0c6cc9a4a930d","a85f1ffbf13016690c856bce9bf8d5d3edebce73e3b0a38841bbb6c23cb4c0b5","ae17653b6cc03a8ceca0a61f09c00dfaf708a1a302b5f1cf8233b6414600a4c9","b10ee70ff341d3e496ebf191429a78f34644072ca2d10196b915c0a18ec6a187","b9a97e8234aba57480fcf25479b4e5edd209774688cd3b4bd7b4ced7776a829f","ba21af3175e71d57ee3848e26befc9bbe8b7bfb9267577d19994b70dbd13eada","bdfb47e1fbb90e918e07986ac5891330de42e14604def39b09d7002536f471a7","c11028c9406db48c7c6e85189edfb3b6d3dd3205f85c2bfb51c3d9ed8564e76e","c13866a3c4faa0b35c74484d155f135490427895aa566fba7ed769b3a2fb7bdd","c3cadd931ca4df4d58575e581676fd181d6f4aaf347c106c13e0fba437036efa","c6369c88f946a378159fd383f7055e929c6bb201fcc139949e49881d3b40764c","c73155ce026d8ab554619ac5615809493be99c8e76216891f5965fd44f6861f0","c9819b298e279e051dce50ca2f9687334b29ece4f5721270ccb8699ab6f361d9","d1ac306db3860c696a0972190361a647bb15512081a4da019d8dbae878f826e6","d1d3f0360063513ad666477db2ae1cf55a2faa3cea497cca885003fc2cc2af43","d2645c9972b63153b608278a29f0600cca975bc21af3504564b97975068921c9","d26fc1ddf20c813beca7d165e9ccd118f0f01ce90cf762f021de18684f659ca2","d5af14dbdc65424f78c0a8ba7ba2617ea6a62b07b0b09379fa7a35179ec101de","d727727f6f4cd8efaa1135d35ce3814a9e710c76f3f9e0e02f78e87aaf05b4c0","db7f853652d385c6787c8542353c6f730a67c10dbd5fc1082bbd7fba4c3221e1","de444f3787c0c0c007a3a673f8c40909973710cdc0f3bdbabcd17bd80f2473fe","e17b430e9ea88f351b618f9b218550094f6214e77561bfea388783fd64aee725","e5f4e9087f8e63fbbddf6e60aff976d4e6dae709752282ddfec4f69cff166771","e6a9a77d2fdea707d990a50ecf6838951d68dadba3830f505cb3ca77b770f8a9","e9adbc974f927c738ce36954842c70595cad1bb795fe75cba24455a801fd5cca","ebcbe200ab83e5bf758da7fa9cbdcf3c891a6f73ddc56945b53a87c7ca289bbc","f752ff58345b1d9c93e3ca86d82d237a7e6939588e22fb39bf35e6fda585b15f","fab35ac365216f2a63fc3769a7905877a1688ac7bfa6c5631f218634c3fb4ae7","ffa238301a64f723210086707f3fc6e5288a97e7cc7042559890db37cf1756b2"],"recordQualifiers":{},"scopeLabel":"ORPHA:2131","sourceIds":["ORPHA:2131"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010264/ORPHA:95702","label":"X-linked adrenal hypoplasia congenita","mondoId":"MONDO:0010264","onsetQualifier":null,"recordKeys":["0257e38e443d9aa0f6d3507e96158ed79a7f5e646dad17115e11560f8fc68119","05c2cec859bcccfd3c2e766cff135c3943ef09d9b26414451eed1233f958f810","0812d42b6eb797c88c357336b94fadc148d51db7b8dea9853f55b8cb395d4cd8","09967133f68cb37031d677fa2424bed5524f2cb77ba9164f7dc6df54035740bf","1be2ccf4537e5efba2a6a857c33c85f665b4bf9981aa3b9c9751130c191202b9","32c15c55e11339ee42009fbbacacffd6e25734a2f484e8e04cfa2f4389307214","44a3137a2ca92e43cc8a57991e8017abc04c942df8f911e33b13a6b696fa69df","55895d8490f8614a143abd56572e06f04f55d4843638b49edfc75e4cf5044f68","5955db3678e77a4e652ae9300ba2e32364c720db1ebc0265f5808ab8d149f3f6","5a7b06704d441dd382078d9927ce65726a06ed4743cc4e68f9e77114bbf1989e","630b4998aa401fea7efae7ef2754e064084ef6194d7998633b1ab93f9ba2cb10","6c1dea7e75ca5dcdaaa12ebe52082ff647c04e72021a0112a4a1b9ab98f4449a","8034a07160831b0c84838f112e2d6ae45226213a762dbf39d896fd56fa65c2f6","95b1d2d5e428da465b668bcae8eaa84958c62fd07d73a99745c85835df7fd870","9ebd7429a91e1d9d21fa58021be33fa28f2df89c3b6b92e64794ff3183a41112","a19aeaf622ce3f01209e549c40e4b8c7ef5ab6503990b9bb48abcfa3ddeb2c7d","ac97997c1276094e55dc7486fc1c5c82efbb79cc02e7df6ff3dc7f2067cacd0e","cc13ad9ad634ebb7cda7a86058633453f40aa73b7fcb464f726313c3cdbbf467","d7e0108f29543e8c3ed75a06721c0434afce01f09b8261a4f72554f84b8f4b4a","de937ebfdccef155431ef350bd3bbe82724e58aefe5bab07a92fa7090e46b5ec","dfe5ad813f4ee47347427b7c9688fc56bb5ebe09e9895b1f4f92d64da0667ebb","e9819f52d1980fb5f33d588b478248331750992fe0f39c4aeb20e214ce5dee1e","eafafb883fc6b538149bc197faf28f83bb73e8d00114d05f0a888476068e69b4","fe51aaf2a40122e7d9433841b80971d2cf99c58cb590c7c70b2a886556c9aa7a"],"recordQualifiers":{},"scopeLabel":"ORPHA:95702","sourceIds":["ORPHA:95702"],"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:0007087/OMIM:104290","MONDO:0010264/OMIM:300200","MONDO:0013900/OMIM:614820","MONDO:0016241/ORPHA:2131"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"

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.

"},"coverage":{"countRecords":8,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":130,"sourceGroups":{"omim":25,"orphanet":89,"published":16}},"features":[{"hpoId":"HP:0003270","label":"Abdominal distention","primary":false},{"hpoId":"HP:0012332","label":"Abnormal autonomic nervous system physiology","primary":false},{"hpoId":"HP:0012547","label":"Abnormal involuntary eye movements","primary":false},{"hpoId":"HP:0007256","label":"Abnormal pyramidal sign","primary":false},{"hpoId":"HP:0005135","label":"Abnormal T-wave","primary":false},{"hpoId":"HP:0000496","label":"Abnormality of eye movement","primary":false},{"hpoId":"HP:0011024","label":"Abnormality of the gastrointestinal tract","primary":false},{"hpoId":"HP:0008197","label":"Absence of pubertal development","primary":false},{"hpoId":"HP:0000835","label":"Adrenal hypoplasia","primary":false},{"hpoId":"HP:0000846","label":"Adrenal insufficiency","primary":false},{"hpoId":"HP:0008186","label":"Adrenocortical cytomegaly","primary":false},{"hpoId":"HP:0000718","label":"Aggressive behavior","primary":false},{"hpoId":"HP:0002039","label":"Anorexia","primary":false},{"hpoId":"HP:0002104","label":"Apnea","primary":false},{"hpoId":"HP:0001284","label":"Areflexia","primary":false},{"hpoId":"HP:0011675","label":"Arrhythmia","primary":false},{"hpoId":"HP:0002835","label":"Aspiration","primary":false},{"hpoId":"HP:0001251","label":"Ataxia (coordination difficulty)","primary":false},{"hpoId":"HP:0000708","label":"Atypical behavior","primary":false},{"hpoId":"HP:0000027","label":"Azoospermia","primary":false},{"hpoId":"HP:0002069","label":"Bilateral tonic-clonic seizure","primary":false},{"hpoId":"HP:0410263","label":"Brain imaging abnormality","primary":false},{"hpoId":"HP:0002483","label":"Bulbar signs","primary":false},{"hpoId":"HP:0031546","label":"Cardiac conduction abnormality","primary":false},{"hpoId":"HP:0001638","label":"Cardiomyopathy","primary":false},{"hpoId":"HP:0002072","label":"Chorea (involuntary movements)","primary":false},{"hpoId":"HP:0001266","label":"Choreoathetosis","primary":false},{"hpoId":"HP:0002019","label":"Constipation","primary":false},{"hpoId":"HP:0000028","label":"Cryptorchidism","primary":false},{"hpoId":"HP:0004319","label":"Decreased circulating aldosterone concentration","primary":false},{"hpoId":"HP:0008163","label":"Decreased circulating cortisol level","primary":false},{"hpoId":"HP:0030344","label":"Decreased circulating luteinizing hormone level","primary":false},{"hpoId":"HP:0046504","label":"Decreased libido","primary":false},{"hpoId":"HP:0040171","label":"Decreased serum testosterone concentration","primary":false},{"hpoId":"HP:0008734","label":"Decreased testicular size","primary":false},{"hpoId":"HP:0001944","label":"Dehydration","primary":false},{"hpoId":"HP:0000823","label":"Delayed puberty","primary":false},{"hpoId":"HP:0000750","label":"Delayed speech and language","primary":false},{"hpoId":"HP:0002376","label":"Developmental regression","primary":false},{"hpoId":"HP:0002014","label":"Diarrhea","primary":false},{"hpoId":"HP:0002714","label":"Downturned corners of mouth","primary":false},{"hpoId":"HP:0001260","label":"Dysarthria","primary":false},{"hpoId":"HP:0002015","label":"Dysphagia","primary":false},{"hpoId":"HP:0001332","label":"Dystonia","primary":false},{"hpoId":"HP:0002353","label":"EEG abnormality","primary":false},{"hpoId":"HP:0000712","label":"Emotional lability","primary":false},{"hpoId":"HP:0012194","label":"Episodic hemiplegia","primary":false},{"hpoId":"HP:0200072","label":"Episodic quadriplegia","primary":false},{"hpoId":"HP:0100639","label":"Erectile dysfunction","primary":false},{"hpoId":"HP:0000565","label":"Esotropia","primary":false},{"hpoId":"HP:0002263","label":"Exaggerated cupid's bow","primary":false},{"hpoId":"HP:0000577","label":"Exotropia","primary":false},{"hpoId":"HP:0000297","label":"Facial hypotonia","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0001531","label":"Failure to thrive in infancy","primary":false},{"hpoId":"HP:0012378","label":"Fatigue","primary":false},{"hpoId":"HP:0031284","label":"Flushing","primary":false},{"hpoId":"HP:0011153","label":"Focal motor seizure","primary":false},{"hpoId":"HP:0002579","label":"Gastrointestinal dysmotility","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0002315","label":"Headache","primary":false},{"hpoId":"HP:0002301","label":"Hemiplegia","primary":false},{"hpoId":"HP:0000348","label":"High forehead","primary":false},{"hpoId":"HP:0000975","label":"Hyperhidrosis","primary":false},{"hpoId":"HP:0002153","label":"Hyperkalemia","primary":false},{"hpoId":"HP:0000953","label":"Hyperpigmentation of the skin","primary":false},{"hpoId":"HP:0001347","label":"Hyperreflexia","primary":false},{"hpoId":"HP:0000044","label":"Hypogonadotropic hypogonadism","primary":false},{"hpoId":"HP:0002902","label":"Hyponatremia","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0100710","label":"Impulsivity","primary":false},{"hpoId":"HP:0003154","label":"Increased circulating ACTH level","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0001268","label":"Decline in thinking abilities","primary":false},{"hpoId":"HP:0003560","label":"Muscular dystrophy","primary":false},{"hpoId":"HP:0011499","label":"Mydriasis","primary":false},{"hpoId":"HP:0002018","label":"Nausea","primary":false},{"hpoId":"HP:0012758","label":"Neurodevelopmental delay","primary":false},{"hpoId":"HP:0000639","label":"Nystagmus","primary":false},{"hpoId":"HP:0031931","label":"Ocular flutter","primary":false},{"hpoId":"HP:0000657","label":"Oculomotor apraxia","primary":false},{"hpoId":"HP:0000798","label":"Oligozoospermia","primary":false},{"hpoId":"HP:0200136","label":"Oral-pharyngeal dysphagia","primary":false},{"hpoId":"HP:0000980","label":"Pallor","primary":false},{"hpoId":"HP:0007166","label":"Paroxysmal dyskinesia","primary":false},{"hpoId":"HP:0000826","label":"Precocious puberty","primary":false},{"hpoId":"HP:0008207","label":"Primary adrenal insufficiency","primary":false},{"hpoId":"HP:0002344","label":"Progressive neurologic deterioration","primary":false},{"hpoId":"HP:0000127","label":"Renal salt wasting","primary":false},{"hpoId":"HP:0002098","label":"Respiratory distress","primary":false},{"hpoId":"HP:0002063","label":"Muscle rigidity","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0032649","label":"Skewfoot","primary":false},{"hpoId":"HP:0002225","label":"Sparse pubic hair","primary":false},{"hpoId":"HP:0002133","label":"Status epilepticus","primary":false},{"hpoId":"HP:0002273","label":"Tetraparesis","primary":false},{"hpoId":"HP:0002445","label":"Tetraplegia","primary":false},{"hpoId":"HP:0045074","label":"Thin eyebrow","primary":false},{"hpoId":"HP:0001337","label":"Tremor","primary":false},{"hpoId":"HP:0002321","label":"Vertigo","primary":false},{"hpoId":"HP:0002013","label":"Vomiting","primary":false},{"hpoId":"HP:0001824","label":"Weight loss","primary":false}],"ledeHtml":"Alternating hemiplegia of childhood is a neurological condition characterized by recurrent episodes of temporary paralysis, often affecting one side of the body (hemiplegia). During some episodes, the paralysis alternates from one side of the body to the other or affects both sides at the same time. These episodes begin in infancy or early childhood, usually before 18 months of age, and the paralysis lasts from minutes to days.","mondoId":"MONDO:0016241","records":[{"frequencyKind":"range","key":"00d4cbdb399d8c7da6a7427a9e5be5eb31bc97579296c289dd97bee8d2c9800d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002069","is_excluded":false,"label":"Bilateral tonic-clonic seizure","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0170c9621ede344a67e5dba88d3110a4740a8c07b5a1785a0f792514c8317f81","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0257e38e443d9aa0f6d3507e96158ed79a7f5e646dad17115e11560f8fc68119","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000823","is_excluded":false,"label":"Delayed puberty","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0418747d9de0edeeca0123c51a44c680c761a715d02f8bb05706b0beb3da7ffc","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000975","is_excluded":false,"label":"Hyperhidrosis","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"05698dfefa9e350794ba69b4427805d718a8c9ada13b15b220373af87b0b7ec5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614820","disease_name":"Alternating hemiplegia of childhood 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:614820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"05c2cec859bcccfd3c2e766cff135c3943ef09d9b26414451eed1233f958f810","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002153","is_excluded":false,"label":"Hyperkalemia","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0812d42b6eb797c88c357336b94fadc148d51db7b8dea9853f55b8cb395d4cd8","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008207","is_excluded":false,"label":"Primary adrenal insufficiency","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"09967133f68cb37031d677fa2424bed5524f2cb77ba9164f7dc6df54035740bf","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002321","is_excluded":false,"label":"Vertigo","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"0a4036237eda84e5f11eb0bee5623224aa97adace7e70591d1b27ce0410931a0","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:300200","disease_name":"Adrenal hypoplasia, congenital","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000846","is_excluded":false,"label":"Adrenal insufficiency","onset_id":null,"reference":"PMID:10022408","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"0f9a2ec0aebdd1331897a2bc9c1f185c3841e67beeb6d2b0b660ee0909a760b7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002063","is_excluded":false,"label":"Rigidity","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1240e40315a05039ed955b34dd533337d33c9b75f8b272e752f22c7500874e73","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002315","is_excluded":false,"label":"Headache","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"131d95a288d77bfcd6d838f9611728cc88ac344851b2ea68fd9ee37a2b6e2cdb","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0031546","is_excluded":false,"label":"Cardiac conduction abnormality","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"1481013b220f6e89c3f3d4da3d613207d469447e370ffc1d45aba88c0dbbb1ee","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:300200","disease_name":"Adrenal hypoplasia, congenital","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0000798","is_excluded":false,"label":"Oligozoospermia","onset_id":null,"reference":"PMID:23384712","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"178b639582eeb35102c3a8a8ec115e6da60859041ef1237072e5e45d4c7d1b05","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1be2ccf4537e5efba2a6a857c33c85f665b4bf9981aa3b9c9751130c191202b9","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000953","is_excluded":false,"label":"Hyperpigmentation of the skin","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"1c07cf1bace4724716dd36f61a9aafa9a581e748745d74a433d101b0c0c1f6ae","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:300200","disease_name":"Adrenal hypoplasia, congenital","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008207","is_excluded":false,"label":"Primary adrenal insufficiency","onset_id":null,"reference":"OMIM:300200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"2154288c9085fa1f274ff6bc6ed24e6587103dcd4423607eb1279f583c4e6dad","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007256","is_excluded":false,"label":"Abnormal pyramidal sign","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"25b0cc251d1309626ee56e32cf7d8083d1c630cdd95c027bb86fb717488fc2e8","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0011675","is_excluded":false,"label":"Arrhythmia","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"26060231b6b2f60ce67ec8812ec77d3fad4d4ba04a62865d83b038cdab3b6cec","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:104290","disease_name":"Alternating hemiplegia of childhood 1","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0200072","is_excluded":false,"label":"Episodic quadriplegia","onset_id":null,"reference":"PMID:15174025","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"2cccdf189bd18db4efbd25df0180f89b7e18079fdd4036ffe2fb9c01611fb1ab","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:614820","disease_name":"Alternating hemiplegia of childhood 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"OMIM:614820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"2d8afad126b46c7967f43a7b04004f79de949cfd9b90dc8fcf631b5082246371","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012332","is_excluded":false,"label":"Abnormal autonomic nervous system physiology","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3209a5f09182ddbd45e26584d1ca644d602d928b2fdff89473ed3bd3e1993bea","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000712","is_excluded":false,"label":"Emotional lability","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"32c15c55e11339ee42009fbbacacffd6e25734a2f484e8e04cfa2f4389307214","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000798","is_excluded":false,"label":"Oligozoospermia","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"34c922bfba2cab9d0aa4b91bbc9c202329af080fac536b8ddf1ae2675bbe202e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"3b4ac05fce393ede42319a91f4fe864eca1d4ad576ddc26624d44c9625f20448","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:300200","disease_name":"Adrenal hypoplasia, congenital","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001944","is_excluded":false,"label":"Dehydration","onset_id":null,"reference":"PMID:10022408","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"3d545e9aa36625a8f302d2a15ad577f60e0f5918cc82a42dcc81a4598225a116","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001944","is_excluded":false,"label":"Dehydration","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"3ef5354dc6d44e495895407768c15bf92940c53e73a478bb1da3652d3fad1eb2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614820","disease_name":"Alternating hemiplegia of childhood 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002133","is_excluded":false,"label":"Status epilepticus","onset_id":null,"reference":"OMIM:614820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"41bc3f9c9f4c8faf9da04a73d0cea55cb9933513a15ff4bcca602cee745a4931","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614820","disease_name":"Alternating hemiplegia of childhood 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002445","is_excluded":false,"label":"Tetraplegia","onset_id":null,"reference":"OMIM:614820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"420c8aac8e333029d19b57842bd6074997a8a70a31988fd7fc805b7212c9471b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001347","is_excluded":false,"label":"Hyperreflexia","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"44a3137a2ca92e43cc8a57991e8017abc04c942df8f911e33b13a6b696fa69df","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008163","is_excluded":false,"label":"Decreased circulating cortisol level","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"452d692bad77e4f591cac78c764480bc44b983ea1127ef89f4bfa45a221822c9","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0031931","is_excluded":false,"label":"Ocular flutter","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4674bce2c58ff5f834979dcbfd61fd1d492fc2375f90f5449702794bf0ebe405","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0045074","is_excluded":false,"label":"Thin eyebrow","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4dca946ec14641e99414b3ccc6d32638f55d1aee1e40496f15b1421d77963000","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000718","is_excluded":false,"label":"Aggressive behavior","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"541095eb30e434601639035ff447bcb37321f17a774f77acb9a55426434e07bf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614820","disease_name":"Alternating hemiplegia of childhood 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"OMIM:614820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"54b20d970d3e3fd278ba56415ba49c1c2cace90e92eb5ede86777b6ff1de67fa","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:300200","disease_name":"Adrenal hypoplasia, congenital","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000027","is_excluded":false,"label":"Azoospermia","onset_id":null,"reference":"OMIM:300200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"54e135d696d39acae9536a27245006b2298861b89927156c3e65b9f5056988f6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0012194","is_excluded":false,"label":"Episodic hemiplegia","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"55895d8490f8614a143abd56572e06f04f55d4843638b49edfc75e4cf5044f68","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"582ed8c32a74e36e85ceca5efe9d673bc4b6dc5dedf73a087fbc7dc1479f69f6","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002039","is_excluded":false,"label":"Anorexia","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5955db3678e77a4e652ae9300ba2e32364c720db1ebc0265f5808ab8d149f3f6","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040280","hpo_id":"HP:0003154","is_excluded":false,"label":"Increased circulating ACTH level","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5a7b06704d441dd382078d9927ce65726a06ed4743cc4e68f9e77114bbf1989e","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008186","is_excluded":false,"label":"Adrenocortical cytomegaly","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5c8095b05507fbda5a977258ec1c015b4a97081974f862c3ca1fb5dc7f074b8b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007166","is_excluded":false,"label":"Paroxysmal dyskinesia","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5e0567cd222c35a9853eca404ce482e57dfa882b73559b9e515390e17409e531","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6223b8d15d38928c5e8760183888682d21a6cd96f6a08f13c03392612ca53953","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002013","is_excluded":false,"label":"Vomiting","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"630b4998aa401fea7efae7ef2754e064084ef6194d7998633b1ab93f9ba2cb10","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001824","is_excluded":false,"label":"Weight loss","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"636c65122c5746aed62173eb1ab5c27703e0de500d0bcd5e21b1a773cf3266c7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:300200","disease_name":"Adrenal hypoplasia, congenital","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003560","is_excluded":false,"label":"Muscular dystrophy","onset_id":null,"reference":"OMIM:300200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"64d524d8ae8c481cfe1a5dbeff284c24ed75f337f8b00eaa2016258e6ce7bea7","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:300200","disease_name":"Adrenal hypoplasia, congenital","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000826","is_excluded":false,"label":"Precocious puberty","onset_id":null,"reference":"OMIM:300200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"665a4412332850ade332149fb8a48c41bd1c5013b6f93d1b29d89f40b670b1fd","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:300200","disease_name":"Adrenal hypoplasia, congenital","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"OMIM:300200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"6a49b701b8702898b17879235006e4aba964b581662b1e7844c6f7aa797fa75e","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002835","is_excluded":false,"label":"Aspiration","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6c1dea7e75ca5dcdaaa12ebe52082ff647c04e72021a0112a4a1b9ab98f4449a","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000044","is_excluded":false,"label":"Hypogonadotropic hypogonadism","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6d6b0b951d9242bcc98e35557eac79cb0c9d38b22d54bcf07d557a97ae3d3098","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002483","is_excluded":false,"label":"Bulbar signs","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6de7d4c86876b419c34b49a70dd2a9c5181f403cc630010a6538cfda51b6b0a6","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011024","is_excluded":false,"label":"Abnormality of the gastrointestinal tract","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"6de9a5302c41af63d3abea0bcc2a496527c7ffdaf93aae6beff74d64190c3d85","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:300200","disease_name":"Adrenal hypoplasia, congenital","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"PMID:10022408","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6e49b17831fa9c1d27049a5e3fee8ce402153dcfcea0be742e29cc0fa00827ee","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000657","is_excluded":false,"label":"Oculomotor apraxia","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"6eb644de5612bdc0b6f722abd2278e82df79626c9b55266c8f577d17bb56ff32","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:300200","disease_name":"Adrenal hypoplasia, congenital","evidence":"PCS","frequency_raw":"2/10","hpo_id":"HP:0000953","is_excluded":false,"label":"Hyperpigmentation of the skin","onset_id":null,"reference":"PMID:10022408","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"702004d53d23c6bb8993336c196c1cb7fcb278147fb46ee6424c5ee22a3cc4f0","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:300200","disease_name":"Adrenal hypoplasia, congenital","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0008163","is_excluded":false,"label":"Decreased circulating cortisol level","onset_id":null,"reference":"PMID:10022408","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7124555abb60c7840d04f48e9efcbc2a40407d6a72ba8ace645fefd359aeb29d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002714","is_excluded":false,"label":"Downturned corners of mouth","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"793d217446c83a153d5750cef35f0279b54cc717b033c667e628273690599298","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:300200","disease_name":"Adrenal hypoplasia, congenital","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000127","is_excluded":false,"label":"Renal salt wasting","onset_id":null,"reference":"PMID:10022408","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"7cdd98756e0d15af9c9a0307299aad477b2309d74eae91ab26e869381a99710b","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:300200","disease_name":"Adrenal hypoplasia, congenital","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002902","is_excluded":false,"label":"Hyponatremia","onset_id":null,"reference":"OMIM:300200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7e2b49082c667b7dd7a289159b5ad3036d647ae8b7a883a8ccb541553961a72c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002273","is_excluded":false,"label":"Tetraparesis","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7e498c94cca3f705094150eac9a84a64f41b471531262fe7c76c9c9136c922b3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000708","is_excluded":false,"label":"Atypical behavior","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8034a07160831b0c84838f112e2d6ae45226213a762dbf39d896fd56fa65c2f6","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0046504","is_excluded":false,"label":"Decreased libido","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"82bc4a06b61e22a749881debc6ece478e3c710b9f96e5caf960b51e19acf640d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8849d4e74cf95b36c9a9e7a87f1c9a751e45986148fde021f4005e892b8241d1","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002098","is_excluded":false,"label":"Respiratory distress","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8b69395c7000c2e302f53649f2691c1f4e37e5456a23386be9c99ded0838f909","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002263","is_excluded":false,"label":"Exaggerated cupid's bow","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8cc86c8a6d1dc9e3d4f4533a6cf3f048719defc39b4420658247904e6d360967","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614820","disease_name":"Alternating hemiplegia of childhood 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"OMIM:614820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8d83e0718b6d2ac112c3164711482c310e7f2712e18d7cff5faf902771a0d53b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614820","disease_name":"Alternating hemiplegia of childhood 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"OMIM:614820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"919ab66fcd54fce5b599b2dbfe9100d0b0a25a16af5df864519cd91a8994a9c9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614820","disease_name":"Alternating hemiplegia of childhood 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001268","is_excluded":false,"label":"Mental deterioration","onset_id":null,"reference":"OMIM:614820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"95b1d2d5e428da465b668bcae8eaa84958c62fd07d73a99745c85835df7fd870","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002018","is_excluded":false,"label":"Nausea","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"96de7c8c0ced71276f11b8c31e4b4c7b922b39eb26bf047e71a7561bf6d68c2c","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0031284","is_excluded":false,"label":"Flushing","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"96edc14ef02f141ce2320e5823696d526107f631cf565023cb25ebdf5cd362bf","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002014","is_excluded":false,"label":"Diarrhea","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"97fbf8eafc2e3e386106693e91d8fc788b95a3615d1b16310df88ca4511b31b2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100710","is_excluded":false,"label":"Impulsivity","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9ebd7429a91e1d9d21fa58021be33fa28f2df89c3b6b92e64794ff3183a41112","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0030344","is_excluded":false,"label":"Decreased circulating luteinizing hormone level","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a19aeaf622ce3f01209e549c40e4b8c7ef5ab6503990b9bb48abcfa3ddeb2c7d","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002014","is_excluded":false,"label":"Diarrhea","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a1b46dc7542e0c10fb5be3f6cd75d6f4318e4bda0aaf13ce257e5e7f0c74db36","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:104290","disease_name":"Alternating hemiplegia of childhood 1","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0012194","is_excluded":false,"label":"Episodic hemiplegia","onset_id":null,"reference":"PMID:15174025","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a332187c58e75b8c3edb7db81ac3f8d83fc034e78dc22008da9ff3be07aca012","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:300200","disease_name":"Adrenal hypoplasia, congenital","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000044","is_excluded":false,"label":"Hypogonadotropic hypogonadism","onset_id":null,"reference":"OMIM:300200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a6a8c4b964a0f9768e72f9dd998c9f5670f4800670317013d1cc393e1c2a5eed","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002104","is_excluded":false,"label":"Apnea","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a7192baa4ff5730f536b485d5e0aa3bd1485e8ce64665507f8c0c6cc9a4a930d","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003270","is_excluded":false,"label":"Abdominal distention","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a81a779cae42491193d76dfe674832d4c17c95c61df653b2d32932be95ccd581","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614820","disease_name":"Alternating hemiplegia of childhood 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"OMIM:614820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a85f1ffbf13016690c856bce9bf8d5d3edebce73e3b0a38841bbb6c23cb4c0b5","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000565","is_excluded":false,"label":"Esotropia","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ac97997c1276094e55dc7486fc1c5c82efbb79cc02e7df6ff3dc7f2067cacd0e","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008734","is_excluded":false,"label":"Decreased testicular size","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ad770866d734edd82b3214e964e98bdd42ddaf6f108c13f3b227eac39a14a04f","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:300200","disease_name":"Adrenal hypoplasia, congenital","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000823","is_excluded":false,"label":"Delayed puberty","onset_id":null,"reference":"OMIM:300200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ae17653b6cc03a8ceca0a61f09c00dfaf708a1a302b5f1cf8233b6414600a4c9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b10ee70ff341d3e496ebf191429a78f34644072ca2d10196b915c0a18ec6a187","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000577","is_excluded":false,"label":"Exotropia","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b9a97e8234aba57480fcf25479b4e5edd209774688cd3b4bd7b4ced7776a829f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000297","is_excluded":false,"label":"Facial hypotonia","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ba21af3175e71d57ee3848e26befc9bbe8b7bfb9267577d19994b70dbd13eada","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0032649","is_excluded":false,"label":"Skewfoot","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bdfb47e1fbb90e918e07986ac5891330de42e14604def39b09d7002536f471a7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001266","is_excluded":false,"label":"Choreoathetosis","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c05036b0dea578b3b92637f6167fbd00265914bea7819d479acfe7af32ea1b20","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:104290","disease_name":"Alternating hemiplegia of childhood 1","evidence":"PCS","frequency_raw":"1/5","hpo_id":"HP:0002376","is_excluded":false,"label":"Developmental regression","onset_id":null,"reference":"PMID:15174025","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c11028c9406db48c7c6e85189edfb3b6d3dd3205f85c2bfb51c3d9ed8564e76e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000348","is_excluded":false,"label":"High forehead","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c13866a3c4faa0b35c74484d155f135490427895aa566fba7ed769b3a2fb7bdd","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001638","is_excluded":false,"label":"Cardiomyopathy","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c3cadd931ca4df4d58575e581676fd181d6f4aaf347c106c13e0fba437036efa","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002579","is_excluded":false,"label":"Gastrointestinal dysmotility","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c4e7357708390ea7af5b3d2984d890220edcd268a91ef5f656c52c9229a3eb53","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614820","disease_name":"Alternating hemiplegia of childhood 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0200072","is_excluded":false,"label":"Episodic quadriplegia","onset_id":null,"reference":"OMIM:614820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c6369c88f946a378159fd383f7055e929c6bb201fcc139949e49881d3b40764c","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000980","is_excluded":false,"label":"Pallor","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c73155ce026d8ab554619ac5615809493be99c8e76216891f5965fd44f6861f0","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002019","is_excluded":false,"label":"Constipation","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c9819b298e279e051dce50ca2f9687334b29ece4f5721270ccb8699ab6f361d9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0410263","is_excluded":true,"label":"Brain imaging abnormality","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"ca6ceb4f971296f0138e73c81df49712955cfde48fe7eced89547763f5c0e4f7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:104290","disease_name":"Alternating hemiplegia of childhood 1","evidence":"PCS","frequency_raw":"4/5","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"PMID:15174025","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"cc13ad9ad634ebb7cda7a86058633453f40aa73b7fcb464f726313c3cdbbf467","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002225","is_excluded":false,"label":"Sparse pubic hair","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"cd8ff373bd5e3c161aee099b9c684350ecbd42122b08dfd46354c61df88d8bc4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:104290","disease_name":"Alternating hemiplegia of childhood 1","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"PMID:15174025","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d1ac306db3860c696a0972190361a647bb15512081a4da019d8dbae878f826e6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002133","is_excluded":false,"label":"Status epilepticus","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d1d3f0360063513ad666477db2ae1cf55a2faa3cea497cca885003fc2cc2af43","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0200136","is_excluded":false,"label":"Oral-pharyngeal dysphagia","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d2645c9972b63153b608278a29f0600cca975bc21af3504564b97975068921c9","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d26fc1ddf20c813beca7d165e9ccd118f0f01ce90cf762f021de18684f659ca2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001337","is_excluded":false,"label":"Tremor","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d5af14dbdc65424f78c0a8ba7ba2617ea6a62b07b0b09379fa7a35179ec101de","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002353","is_excluded":true,"label":"EEG abnormality","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d65f5f98d76c963a2b4108d5fa5e3c9e928511e0eccc3bbd7d7f09eba1614f09","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:104290","disease_name":"Alternating hemiplegia of childhood 1","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"PMID:15174025","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"d6e7186578b2f802ebd6c4d318aeec69d20b3e6bfb52e4af3d63a8b9767fc792","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:614820","disease_name":"Alternating hemiplegia of childhood 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000496","is_excluded":false,"label":"Abnormality of eye movement","onset_id":null,"reference":"OMIM:614820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d727727f6f4cd8efaa1135d35ce3814a9e710c76f3f9e0e02f78e87aaf05b4c0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002015","is_excluded":false,"label":"Dysphagia","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d7e0108f29543e8c3ed75a06721c0434afce01f09b8261a4f72554f84b8f4b4a","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002013","is_excluded":false,"label":"Vomiting","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"db7f853652d385c6787c8542353c6f730a67c10dbd5fc1082bbd7fba4c3221e1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011153","is_excluded":false,"label":"Focal motor seizure","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"de157594000035de1eeb34b22f0a397e58f2b21173dee718d0b693211112c54e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:104290","disease_name":"Alternating hemiplegia of childhood 1","evidence":"PCS","frequency_raw":"0/5","hpo_id":"HP:0002315","is_excluded":true,"label":"Headache","onset_id":null,"reference":"PMID:15174025","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"de444f3787c0c0c007a3a673f8c40909973710cdc0f3bdbabcd17bd80f2473fe","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012758","is_excluded":false,"label":"Neurodevelopmental delay","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"de937ebfdccef155431ef350bd3bbe82724e58aefe5bab07a92fa7090e46b5ec","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012378","is_excluded":false,"label":"Fatigue","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"deb84ffa5a8bef8ef0c5d93a98ec98fdb8cd5f61f0385a8ce24619a92c39a83f","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:300200","disease_name":"Adrenal hypoplasia, congenital","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008197","is_excluded":false,"label":"Absence of pubertal development","onset_id":null,"reference":"OMIM:300200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"dfe5ad813f4ee47347427b7c9688fc56bb5ebe09e9895b1f4f92d64da0667ebb","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100639","is_excluded":false,"label":"Erectile dysfunction","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e17b430e9ea88f351b618f9b218550094f6214e77561bfea388783fd64aee725","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011499","is_excluded":false,"label":"Mydriasis","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e1b09aca3177b18ff8f40a26c77d6fe9f3494456478d970638c0cfd24ae35e47","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:300200","disease_name":"Adrenal hypoplasia, congenital","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000835","is_excluded":false,"label":"Adrenal hypoplasia","onset_id":null,"reference":"OMIM:300200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e5f4e9087f8e63fbbddf6e60aff976d4e6dae709752282ddfec4f69cff166771","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0005135","is_excluded":false,"label":"Abnormal T-wave","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e6a9a77d2fdea707d990a50ecf6838951d68dadba3830f505cb3ca77b770f8a9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002344","is_excluded":false,"label":"Progressive neurologic deterioration","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e8188dd7a81bf8534132bdf12137261b32b25c79ec04e5bad7d8174b367fdd58","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614820","disease_name":"Alternating hemiplegia of childhood 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001266","is_excluded":false,"label":"Choreoathetosis","onset_id":null,"reference":"OMIM:614820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e9819f52d1980fb5f33d588b478248331750992fe0f39c4aeb20e214ce5dee1e","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001531","is_excluded":false,"label":"Failure to thrive in infancy","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e9adbc974f927c738ce36954842c70595cad1bb795fe75cba24455a801fd5cca","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012547","is_excluded":false,"label":"Abnormal involuntary eye movements","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"eafafb883fc6b538149bc197faf28f83bb73e8d00114d05f0a888476068e69b4","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0040171","is_excluded":false,"label":"Decreased serum testosterone concentration","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ebcbe200ab83e5bf758da7fa9cbdcf3c891a6f73ddc56945b53a87c7ca289bbc","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ed5173cf75fa250196116372a0e2e1c106bc8cd4311131860a87e68959fe0d05","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:104290","disease_name":"Alternating hemiplegia of childhood 1","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001266","is_excluded":false,"label":"Choreoathetosis","onset_id":null,"reference":"PMID:15174025","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f0489cc7ddeb5b35bff0ab59914a95dcfced694bbb51ade3feaab0da2cb3e256","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614820","disease_name":"Alternating hemiplegia of childhood 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002301","is_excluded":false,"label":"Hemiplegia","onset_id":null,"reference":"OMIM:614820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f56197f35822967af3ff844d419d7eaed091da377f3cb59bd8cf2c67bb1e2c41","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:300200","disease_name":"Adrenal hypoplasia, congenital","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004319","is_excluded":false,"label":"Decreased circulating aldosterone concentration","onset_id":null,"reference":"OMIM:300200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f752ff58345b1d9c93e3ca86d82d237a7e6939588e22fb39bf35e6fda585b15f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001284","is_excluded":false,"label":"Areflexia","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f91ff24b73642e744eddd42ab81741745d0caacd755c407b8d703f79737ddce2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:104290","disease_name":"Alternating hemiplegia of childhood 1","evidence":"PCS","frequency_raw":"4/5","hpo_id":"HP:0002069","is_excluded":false,"label":"Bilateral tonic-clonic seizure","onset_id":null,"reference":"PMID:15174025","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"fa71f1b847596d633180ca975ddb1349d2754cf5e453cf12b0745cf7b647cbdc","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614820","disease_name":"Alternating hemiplegia of childhood 2","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"OMIM:614820","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"fab35ac365216f2a63fc3769a7905877a1688ac7bfa6c5631f218634c3fb4ae7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fe51aaf2a40122e7d9433841b80971d2cf99c58cb590c7c70b2a886556c9aa7a","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:95702","disease_name":"X-linked adrenal hypoplasia congenita","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002902","is_excluded":false,"label":"Hyponatremia","onset_id":null,"reference":"ORPHA:95702","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ffa238301a64f723210086707f3fc6e5288a97e7cc7042559890db37cf1756b2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:2131","disease_name":"Alternating hemiplegia of childhood","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002072","is_excluded":false,"label":"Chorea","onset_id":null,"reference":"ORPHA:2131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Alternating hemiplegia of childhood is primarily caused by mutations in the ATP1A3 gene. Very rarely, a mutation in the ATP1A2 gene is involved in the condition. These genes provide instructions for making very similar proteins. They function as different forms of one piece, the alpha subunit, of a larger protein complex called Na+/K+ ATPase; the two versions of the complex are found in different parts of the brain. Both versions play a critical role in the normal function of nerve cells (neurons). Na+/K+ ATPase transports charged atoms (ions) into and out of neurons, which is an essential part of the signaling process that controls muscle movement.

Mutations in the ATP1A3 or ATP1A2 gene reduce the activity of the Na+/K+ ATPase, impairing its ability to transport ions normally. It is unclear how a malfunctioning Na+/K+ ATPase causes the episodes of paralysis or uncontrollable movements characteristic of alternating hemiplegia of childhood.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Alternating hemiplegia of childhood?"},{"bodyHtml":"

In addition to paralysis, affected individuals can have sudden attacks of uncontrollable muscle activity; these can cause involuntary limb movements (choreoathetosis), muscle tensing (dystonia), movement of the eyes (nystagmus), or shortness of breath (dyspnea). People with alternating hemiplegia of childhood may also experience sudden redness and warmth (flushing) or unusual paleness (pallor) of the skin. These attacks can occur during or separately from episodes of hemiplegia.

The episodes of hemiplegia or uncontrolled movements can be triggered by certain factors, such as stress, extreme tiredness, cold temperatures, or bathing, although the trigger is not always known. A characteristic feature of alternating hemiplegia of childhood is that all symptoms disappear while the affected person is sleeping but can reappear shortly after awakening. The number and length of the episodes initially worsen throughout childhood but then begin to decrease over time. The uncontrollable muscle movements may disappear entirely, but the episodes of hemiplegia occur throughout life.

Alternating hemiplegia of childhood also causes mild to severe cognitive problems. Almost all affected individuals have some level of developmental delay and intellectual disability. Their cognitive functioning typically declines over time.

Source: MedlinePlus Genetics

X-linked adrenal hypoplasia congenita

X-linked adrenal hypoplasia congenita is a disorder that is noticeable from birth (congenital) and affects the development of the adrenal glands, which are hormone-producing (endocrine) organs (glands) located on top of each kidney. These glands produce a variety of hormones that regulate many essential functions in the body, such as response to stress.

One of the main signs of this disorder is adrenal insufficiency, which occurs when the adrenal glands do not produce enough hormones. Adrenal insufficiency typically begins in infancy or childhood and can cause vomiting, difficulty with feeding, dehydration, extremely low blood glucose (hypoglycemia), and shock. If untreated, these complications are often life-threatening.

Individuals with X-linked adrenal hypoplasia congenita may also have a shortage of male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles (cryptorchidism), delayed puberty, and an inability to father children (infertility). Together, these characteristics are known as hypogonadotropic hypogonadism.

The onset and severity of these signs and symptoms can vary, even among affected members of the same family.

Causes

Variants (also called mutations) in the NR0B1 gene cause X-linked adrenal hypoplasia congenita. The NR0B1 gene provides instructions to make a protein called DAX1. This protein plays an important role in the development and function of several endocrine tissues including the adrenal glands, two hormone-secreting glands in the brain (the hypothalamus and pituitary), and the gonads (ovaries in females and testes in males). The hormones produced by these glands control many important body functions.

Some NR0B1 variants result in the production of an inactive version of the DAX1 protein, while other variants delete the entire gene. The resulting shortage of DAX1 disrupts the normal development and function of hormone-producing tissues in the body. The signs and symptoms of adrenal insufficiency and hypogonadotropic hypogonadism occur when endocrine glands do not produce the right amounts of certain hormones.

Rarely, the entire NR0B1 gene is deleted along with other neighboring genes, resulting in the development of X-linked adrenal hypoplasia with hypoplasia congenita and other diseases, such as Duchenne and Becker muscular dystrophy and glycerol kinase deficiency.

MedlinePlus Genetics: Causes

MedlinePlus: X-linked adrenal hypoplasia congenita

","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"alternating-hemiplegia-of-childhood","sourceDocuments":[{"name":"Alternating hemiplegia of childhood","reviewed":"2014-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:19.396770+00:00","label":"Causes","pageSha256":"1becc95cb2b36674ca0ad21a3a1e63867c9f48d3a3025c9fbf85da73b9756e24","sourceUrl":"https://medlineplus.gov/genetics/condition/alternating-hemiplegia-of-childhood/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/alternating-hemiplegia-of-childhood"},{"name":"X-linked adrenal hypoplasia congenita","reviewed":"2022-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:53.247271+00:00","label":"Causes","pageSha256":"12d5a683a2f96239bd1074d3641c3e923020e5481ffe8c48837effdabb284ea2","sourceUrl":"https://medlineplus.gov/genetics/condition/x-linked-adrenal-hypoplasia-congenita/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/x-linked-adrenal-hypoplasia-congenita"}],"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":"Alternating hemiplegia of childhood"},"schemaVersion":1}