| 順位 （類似度） |
PMID (PMCID) |
|---|
|
|
合計: 39
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000219 | 薄い上口唇唇紅部 | Very frequent (99-80%) |
| HP:0000252 | 小頭 | Very frequent (99-80%) |
| HP:0000341 | 狭い額 | Very frequent (99-80%) |
| HP:0000426 | 目立つ鼻梁 | Very frequent (99-80%) |
| HP:0000455 | 幅広い鼻尖 | Very frequent (99-80%) |
| HP:0001263 | 全般性発達遅滞 | Very frequent (99-80%) |
| HP:0001319 | 新生児筋緊張低下 | Very frequent (99-80%) |
| HP:0001999 | 異常な顔の形 | Very frequent (99-80%) |
| HP:0002465 | 発語不全 | Very frequent (99-80%) |
| HP:0010864 | 知的障害, 重度 | Very frequent (99-80%) |
| HP:0000286 | 内眼角贅皮 | Frequent (79-30%) |
| HP:0000308 | 小顎後退 | Frequent (79-30%) |
| HP:0000368 | 低位の後方回転した耳介 | Frequent (79-30%) |
| HP:0000486 | 斜視 | Frequent (79-30%) |
| HP:0000508 | 眼瞼下垂 | Frequent (79-30%) |
| HP:0001250 | 発作 | Frequent (79-30%) |
| HP:0001357 | 斜頭 | Frequent (79-30%) |
| HP:0001363 | Craniosynostosis | Frequent (79-30%) |
| HP:0001510 | 成長遅滞 | Frequent (79-30%) |
| HP:0001629 | 心室中隔欠損 | Frequent (79-30%) |
| HP:0001631 | 心房中隔欠損 | Frequent (79-30%) |
| HP:0001643 | 動脈管開存症 | Frequent (79-30%) |
| HP:0002020 | 胃食道逆流 | Frequent (79-30%) |
| HP:0002643 | 新生児呼吸窮迫 | Frequent (79-30%) |
| HP:0002714 | 口角下垂 | Frequent (79-30%) |
| HP:0003552 | 筋硬直 | Frequent (79-30%) |
| HP:0004322 | 低身長 | Frequent (79-30%) |
| HP:0011968 | 食餌摂取障害 | Frequent (79-30%) |
| HP:0100704 | 皮質性視力障害 | Frequent (79-30%) |
| HP:0000028 | 停留精巣 | Occasional (29-5%) |
| HP:0000126 | 水腎症 | Occasional (29-5%) |
| HP:0000175 | 口蓋裂 | Occasional (29-5%) |
| HP:0000648 | 視神経萎縮 | Occasional (29-5%) |
| HP:0001156 | 短指症候群 | Occasional (29-5%) |
| HP:0001332 | ジストニア | Occasional (29-5%) |
| HP:0001601 | 喉頭軟化症 | Occasional (29-5%) |
| HP:0002566 | 腸回転異常 | Occasional (29-5%) |
| HP:0004467 | 耳介前小孔 | Occasional (29-5%) |
| HP:0007678 | 涙管狭窄 | Occasional (29-5%) |
合計: 0
| HPO ID | 徴候・症状 | 症例報告数 |
|---|