{"entities":{"Q102690":{"pageid":93083,"ns":120,"title":"Item:Q102690","lastrevid":589341,"modified":"2026-08-16T19:52:58Z","type":"item","id":"Q102690","labels":{"mul":{"language":"mul","value":"ID_1531821301"},"pt-br":{"language":"pt-br","value":"Agamaglobulinemia - microcefalia - craniossinostose - dermatite grave"},"en":{"language":"en","value":"Agammaglobulinaemia - microcephaly - craniosynostosis - severe dermatitis"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Esta s\u00edndrome combina agamaglobulinemia com microcefalia acentuada, atraso significativo no desenvolvimento, craniossinostose, dermatite grave, fenda palatina, estreitamento das coanas e blefarofimose. Foi descrita em tr\u00eas irm\u00e3os, dois homens e uma mulher, nascidos de pais n\u00e3o consangu\u00edneos. A transmiss\u00e3o \u00e9 provavelmente autoss\u00f4mica recessiva. Tem sido sugerido que esta s\u00edndrome represente uma nova forma de agamaglobulinemia devida a um defeito na matura\u00e7\u00e3o precoce das c\u00e9lulas B."},"en":{"language":"en","value":"This syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"ef888f7bed0b080bcb537d4b7148884ee9ddbf99","datavalue":{"value":"https://id.who.int/icd/entity/1531821301","type":"string"},"datatype":"url"},"type":"statement","id":"Q102690$8F79F984-0B43-420B-80F9-2F8DABFFABA2","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"fac202fe152c3f4562ad8e4e51775c597e0eec1d","datavalue":{"value":"CID11:ID_1531821301","type":"string"},"datatype":"string"},"type":"statement","id":"Q102690$D26BD4A3-F26B-4239-816D-2254172F3BA7","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"41ef113587f6097fb04f3c6e15f208d962ed592f","datavalue":{"value":"dki-india-ID_1531821301","type":"string"},"datatype":"string"},"type":"statement","id":"Q102690$68FC0DCA-B0F3-412A-A78E-8C28968BA1F4","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q102690$287BE632-83BF-4F7E-83F7-C8C0D77B9EA3","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":"Q102690$9E15E09B-2733-4D5F-89AD-7C4FCEB06B59","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":"Q102690$8908AAD7-7055-4FC1-86EA-950FD50CD9CE","rank":"normal"}]},"sitelinks":{}}}}