{"entities":{"Q94133":{"pageid":84526,"ns":120,"title":"Item:Q94133","lastrevid":527434,"modified":"2026-08-16T09:15:11Z","type":"item","id":"Q94133","labels":{"mul":{"language":"mul","value":"ID_702011756"},"pt-br":{"language":"pt-br","value":"Catarata - D\u00e9ficit intelectual - hipogonadismo"},"en":{"language":"en","value":"Cataract - intellectual deficit - hypogonadism"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Esta s\u00edndrome \u00e9 caracterizada pela associa\u00e7\u00e3o de d\u00e9ficit intelectual, catarata cong\u00eanita e hipogonadismo hipogonadotr\u00f3fico. At\u00e9 o momento, menos de 20 casos foram descritos na literatura. Al\u00e9m das tr\u00eas caracter\u00edsticas principais da s\u00edndrome, outras anomalias foram relatadas em alguns dos pacientes afetados, incluindo baixa estatura, anormalidades digitais menores, microcefalia, cardiomiopatia, insufici\u00eancia card\u00edaca e dismorfismo facial leve (micrognatia, hipoplasia da maxila, linha capilar posterior baixa e ouvidos grandes). A transmiss\u00e3o \u00e9 autoss\u00f4mica recessiva e muta\u00e7\u00f5es no gene RAB3GAP2 foram identificadas em alguns pacientes."},"en":{"language":"en","value":"This syndrome is characterised by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Less than 20 cases have been described in the literature so far. Besides the three main features of the syndrome, other anomalies have been reported in some of the affected patients including short stature, minor digital abnormalities, microcephaly, cardiomyopathy, heart failure, and mild facial dysmorphism (micrognathia, maxilla hypoplasia, low posterior hairline and large ears). Transmission is autosomal recessive and mutations in the RAB3GAP2 gene have been identified in some patients."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"97258bd71cad916ddef8fb063cc0d8bd9930608d","datavalue":{"value":"https://id.who.int/icd/entity/702011756","type":"string"},"datatype":"url"},"type":"statement","id":"Q94133$D4D1ECE0-3C7C-42D3-819B-F6403BBDF9A7","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"7b8c0b2ac87a6d10e914f05bf470d95145e4af03","datavalue":{"value":"CID11:ID_702011756","type":"string"},"datatype":"string"},"type":"statement","id":"Q94133$415CBF2C-3A1C-4480-9AE3-DDAD29B2357A","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"99b3f416d3567f4ac3ab7cf55a828466cdfa1981","datavalue":{"value":"dki-india-ID_702011756","type":"string"},"datatype":"string"},"type":"statement","id":"Q94133$67EA2FD8-EC26-4D9B-96A3-801790883407","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q94133$923A13FE-9B58-4C13-A737-376F53BE328C","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":"Q94133$11A1D200-5364-4966-BE8F-BE81A2A180FE","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q94133$799F68FE-AF2A-4704-B3E4-3631A300CF63","rank":"normal"}]},"sitelinks":{}}}}