| 順位 （類似度） |
PMID (PMCID) |
|---|
|
|
合計: 37
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000369 | 耳介低位 | Very frequent (99-80%) |
| HP:0001171 | 裂手 | Very frequent (99-80%) |
| HP:0001249 | 知的障害 | Very frequent (99-80%) |
| HP:0008872 | 食餌摂取障害 in infancy | Very frequent (99-80%) |
| HP:0000028 | 停留精巣 | Frequent (79-30%) |
| HP:0000047 | 尿道下裂 | Frequent (79-30%) |
| HP:0000175 | 口蓋裂 | Frequent (79-30%) |
| HP:0000204 | 上口唇裂 | Frequent (79-30%) |
| HP:0000316 | 両眼隔離 | Frequent (79-30%) |
| HP:0000348 | 高い額 | Frequent (79-30%) |
| HP:0000431 | 幅広い鼻梁 | Frequent (79-30%) |
| HP:0000527 | 長い睫毛 | Frequent (79-30%) |
| HP:0001163 | 中手骨の異常 | Frequent (79-30%) |
| HP:0001511 | 子宮内成長遅滞 | Frequent (79-30%) |
| HP:0001839 | 裂足 | Frequent (79-30%) |
| HP:0002120 | 大脳皮質萎縮 | Frequent (79-30%) |
| HP:0008736 | 陰茎低形成 | Frequent (79-30%) |
| HP:0000520 | 眼球突出 | Occasional (29-5%) |
| HP:0000836 | 甲状腺機能亢進症 | Occasional (29-5%) |
| HP:0001250 | 発作 | Occasional (29-5%) |
| HP:0001252 | 筋緊張低下 | Occasional (29-5%) |
| HP:0001276 | 筋緊張亢進 | Occasional (29-5%) |
| HP:0001373 | 関節脱臼 | Occasional (29-5%) |
| HP:0001522 | Death in infancy | Occasional (29-5%) |
| HP:0001629 | 心室中隔欠損 | Occasional (29-5%) |
| HP:0001631 | 心房中隔欠損 | Occasional (29-5%) |
| HP:0001636 | Fallot 四徴症 | Occasional (29-5%) |
| HP:0001660 | 総動脈幹 | Occasional (29-5%) |
| HP:0001680 | 大動脈縮窄 | Occasional (29-5%) |
| HP:0001718 | 僧帽弁狭窄 | Occasional (29-5%) |
| HP:0001770 | 合趾症 | Occasional (29-5%) |
| HP:0001822 | 外反母趾 | Occasional (29-5%) |
| HP:0001829 | 多趾症 | Occasional (29-5%) |
| HP:0002023 | 鎖肛 | Occasional (29-5%) |
| HP:0006101 | 合指症 | Occasional (29-5%) |
| HP:0100490 | 屈指 | Occasional (29-5%) |
| HP:0100589 | 泌尿生殖器瘻 | 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 |
|---|