順位 (類似度) |
PMID (PMCID) |
---|
|
合計: 19
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000252 | 小頭 | Very frequent (99-80%) |
HP:0000268 | 長頭 | Very frequent (99-80%) |
HP:0000272 | 平坦な頬 | Very frequent (99-80%) |
HP:0000369 | 耳介低位 | Very frequent (99-80%) |
HP:0000400 | 大耳 | Very frequent (99-80%) |
HP:0002187 | 知的障害, 最重度 | Very frequent (99-80%) |
HP:0002362 | ひきずり歩行 | Very frequent (99-80%) |
HP:0002705 | 高狭口蓋 | Very frequent (99-80%) |
HP:0002751 | 後側弯 | Very frequent (99-80%) |
HP:0003199 | 筋量減少 | Very frequent (99-80%) |
HP:0004322 | 低身長 | Very frequent (99-80%) |
HP:0005469 | 平坦な後頭 | Very frequent (99-80%) |
HP:0000494 | 眼瞼裂斜下 | Frequent (79-30%) |
HP:0000518 | 白内障 | Frequent (79-30%) |
HP:0003413 | 環軸椎異常 | Frequent (79-30%) |
HP:0005620 | 指間(IP)関節過動 | Frequent (79-30%) |
HP:0010055 | 幅広い母趾 | Frequent (79-30%) |
HP:0011304 | 幅広い母指 | Frequent (79-30%) |
HP:0012811 | 幅広い鼻梁 | Frequent (79-30%) |
合計: 0
HPO ID | 徴候・症状 | 症例報告数 |
---|
合計: 0
Gene Symbol | 遺伝子名 | Entrez Gene ID |
---|