| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 21 (4.0%) |
20425819 |
Mutation of CANT1 causes Desbuquois dysplasia. Faden M, Al-Zahrani F, Arafah D, Alkuraya FS. Am J Med Genet A. 2010;152A(5):1157-60. |
| 認知障害 | ||
| CANT1 | ||
| rs587776895 | ||
| DNA変異解析 Molecular Sequence Data ヌクレオチダーゼ ヒト ホモ接合体 先天性手変形 塩基配列 変異 女 妊娠 新生児 男 顔貌 | ||
| 21 (4.0%) |
7606320 |
Desbuquois syndrome: three further cases and review of the literature. Gillessen-Kaesbach G, Meinecke P, Ausems MG, Nothen M, Albrecht B, Beemer FA, Zerres K. Clin Dysmorphol. 1995;4(2):136-44. |
| 低身長 | ||
| ヒト 女 子供（未就学） 幼児 男 症候群 身長 顔面 |
合計: 29
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000463 | 上向きの鼻孔 | Very frequent (99-80%) |
| HP:0000470 | 短い頸部 | Very frequent (99-80%) |
| HP:0000501 | 緑内障 | Very frequent (99-80%) |
| HP:0000520 | 眼球突出 | Very frequent (99-80%) |
| HP:0000944 | 骨幹端の異常 | Very frequent (99-80%) |
| HP:0001249 | 知的障害 | Very frequent (99-80%) |
| HP:0001591 | ベル型胸 | Very frequent (99-80%) |
| HP:0002999 | 膝蓋骨脱臼 | Very frequent (99-80%) |
| HP:0003366 | 大腿骨頸部および頭部領域の異常 | Very frequent (99-80%) |
| HP:0003510 | 重度の低身長 | Very frequent (99-80%) |
| HP:0005280 | 落ちくぼんだ鼻梁 | Very frequent (99-80%) |
| HP:0005616 | 骨成熟促進 | Very frequent (99-80%) |
| HP:0005692 | 関節過伸展 | Very frequent (99-80%) |
| HP:0008873 | 不均衡型短肢低身長 | Very frequent (99-80%) |
| HP:0010318 | 腹壁筋無形成/低形成 | Very frequent (99-80%) |
| HP:0100490 | 屈指 | Very frequent (99-80%) |
| HP:0000368 | 低位の後方回転した耳介 | Frequent (79-30%) |
| HP:0000499 | 睫毛の異常 | Frequent (79-30%) |
| HP:0000592 | 青色強膜 | Frequent (79-30%) |
| HP:0001006 | 寡毛症 | Frequent (79-30%) |
| HP:0001629 | 心室中隔欠損 | Frequent (79-30%) |
| HP:0002650 | 側弯 | Frequent (79-30%) |
| HP:0002673 | 外反股 | Frequent (79-30%) |
| HP:0002812 | 内反股 | Frequent (79-30%) |
| HP:0002816 | 反張膝 | Frequent (79-30%) |
| HP:0002974 | 橈尺骨癒合 | Frequent (79-30%) |
| HP:0003042 | 肘脱臼 | Frequent (79-30%) |
| HP:0004209 | 第5指弯指 | Frequent (79-30%) |
| HP:0200055 | 小さい手 | Frequent (79-30%) |
合計: 16
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0002652 | 骨格異形成 | 6 |
| HP:0001388 | 関節指間 | 3 |
| HP:0004322 | 低身長 | 3 |
| HP:0000938 | 骨減少症 | 2 |
| HP:0000824 | 成長ホルモン欠乏症 | 1 |
| HP:0001289 | 錯乱 | 1 |
| HP:0002650 | 側弯 | 1 |
| HP:0002761 | 全身性関節弛緩 | 1 |
| HP:0002947 | 頚椎後弯 | 1 |
| HP:0003502 | 軽度の低身長 | 1 |
| HP:0003510 | 重度の低身長 | 1 |
| HP:0005716 | 致死性骨格異形成 | 1 |
| HP:0006243 | 指趾骨脱臼 | 1 |
| HP:0008897 | 生後の成長遅滞 | 1 |
| HP:0010049 | 短い中手骨 | 1 |
| HP:0100543 | 認知障害 | 1 |