| 順位 （類似度） |
PMID (PMCID) |
|---|
|
|
合計: 55
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000750 | 発語および言語発達遅延 | Very frequent (99-80%) |
| HP:0001263 | 全般性発達遅滞 | Very frequent (99-80%) |
| HP:0000233 | 薄い唇紅部縁 | Frequent (79-30%) |
| HP:0000248 | 短頭 | Frequent (79-30%) |
| HP:0000252 | 小頭 | Frequent (79-30%) |
| HP:0000286 | 内眼角贅皮 | Frequent (79-30%) |
| HP:0000337 | 幅広い額 | Frequent (79-30%) |
| HP:0000369 | 耳介低位 | Frequent (79-30%) |
| HP:0000407 | 感音難聴 | Frequent (79-30%) |
| HP:0000446 | 狭い鼻梁 | Frequent (79-30%) |
| HP:0000463 | 上向きの鼻孔 | Frequent (79-30%) |
| HP:0000470 | 短い頸部 | Frequent (79-30%) |
| HP:0000664 | 連続眉毛 | Frequent (79-30%) |
| HP:0000668 | 減歯症 | Frequent (79-30%) |
| HP:0000752 | 多動 | Frequent (79-30%) |
| HP:0001250 | 発作 | Frequent (79-30%) |
| HP:0001252 | 筋緊張低下 | Frequent (79-30%) |
| HP:0001511 | 子宮内成長遅滞 | Frequent (79-30%) |
| HP:0001631 | 心房中隔欠損 | Frequent (79-30%) |
| HP:0002119 | 脳室拡大 | Frequent (79-30%) |
| HP:0002650 | 側弯 | Frequent (79-30%) |
| HP:0004209 | 第5指弯指 | Frequent (79-30%) |
| HP:0004279 | 短い手掌 | Frequent (79-30%) |
| HP:0008572 | 外耳奇形 | Frequent (79-30%) |
| HP:0011675 | 不整脈 | Frequent (79-30%) |
| HP:0000028 | 停留精巣 | Occasional (29-5%) |
| HP:0000047 | 尿道下裂 | Occasional (29-5%) |
| HP:0000175 | 口蓋裂 | Occasional (29-5%) |
| HP:0000316 | 両眼隔離 | Occasional (29-5%) |
| HP:0000343 | 長い人中 | Occasional (29-5%) |
| HP:0000405 | 伝音難聴 | Occasional (29-5%) |
| HP:0000486 | 斜視 | Occasional (29-5%) |
| HP:0000520 | 眼球突出 | Occasional (29-5%) |
| HP:0000545 | 近視 | Occasional (29-5%) |
| HP:0000639 | 眼振 | Occasional (29-5%) |
| HP:0000821 | 甲状腺機能低下症 | Occasional (29-5%) |
| HP:0000826 | 思春期早発 | Occasional (29-5%) |
| HP:0001363 | Craniosynostosis | Occasional (29-5%) |
| HP:0001397 | 脂肪肝 | Occasional (29-5%) |
| HP:0001513 | 肥満 | Occasional (29-5%) |
| HP:0001629 | 心室中隔欠損 | Occasional (29-5%) |
| HP:0001653 | 僧帽弁逆流 | Occasional (29-5%) |
| HP:0001659 | 大動脈逆流 | Occasional (29-5%) |
| HP:0001852 | サンダルギャップ | Occasional (29-5%) |
| HP:0001863 | 弯趾 | Occasional (29-5%) |
| HP:0001869 | 深い足底屈曲線 | Occasional (29-5%) |
| HP:0002079 | 脳梁低形成 | Occasional (29-5%) |
| HP:0002230 | 全身性多毛 | Occasional (29-5%) |
| HP:0002804 | 先天性多発性関節拘縮 | Occasional (29-5%) |
| HP:0002808 | 後弯 | Occasional (29-5%) |
| HP:0003077 | 高脂血症 | Occasional (29-5%) |
| HP:0006101 | 合指症 | Occasional (29-5%) |
| HP:0006191 | 深い手掌屈曲線 | Occasional (29-5%) |
| HP:0006817 | 小脳虫部無形成/低形成 | Occasional (29-5%) |
| HP:0100716 | 自傷行動 | Occasional (29-5%) |
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 |
|---|