{"entities":{"Q86114":{"pageid":76499,"ns":120,"title":"Item:Q86114","lastrevid":469688,"modified":"2026-08-15T11:28:47Z","type":"item","id":"Q86114","labels":{"mul":{"language":"mul","value":"ID_1094336651"},"pt-br":{"language":"pt-br","value":"Neurodegenera\u00e7\u00e3o devida \u00e0 defici\u00eancia de 3-hidroxi-isobutiril-CoA hidrolase"},"en":{"language":"en","value":"Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Neurodegenera\u00e7\u00e3o devida a defici\u00eancia de 3-hidroxi-isobutiril-CoA hidrolase \u00e9 caracterizada por atraso do desenvolvimento motor, hipotonia e neurodegenera\u00e7\u00e3o progressiva. at\u00e9 o momento, foi descrita em 4 garotos. A s\u00edndrome \u00e9 causada por muta\u00e7\u00f5es que afetam dois alelos do gene HIBCH, que codifica a 3-hidroxi-isobutiril-CoA hidrolase. O modo de transmiss\u00e3o ainda n\u00e3o est\u00e1 estabelecido."},"en":{"language":"en","value":"Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the <i> HIBCH</i> gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"f483f1275908ce3f88ce03934cec9832d6d3d790","datavalue":{"value":"https://id.who.int/icd/entity/1094336651","type":"string"},"datatype":"url"},"type":"statement","id":"Q86114$92CB362C-08A3-4067-9F26-1824B298260A","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"b3be57c909750aa3cc12b3ece49342f955938b93","datavalue":{"value":"CID11:ID_1094336651","type":"string"},"datatype":"string"},"type":"statement","id":"Q86114$826C8B90-AF72-4B96-8499-CE4173E70DEF","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"67fb9af9c8cac9b43dcd076706e0c9a7a23e163a","datavalue":{"value":"dki-india-ID_1094336651","type":"string"},"datatype":"string"},"type":"statement","id":"Q86114$3800B6EB-9D75-40ED-873A-87E1797515AC","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q86114$F2D30B23-EFBC-45ED-B4CD-CF07367F6590","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q86114$B5289EF2-8359-49D8-8B15-4180F8231366","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q86114$9F5560CC-E997-41E8-AF87-8C3A1923A82E","rank":"normal"}]},"sitelinks":{}}}}