| 順位 （類似度） |
PMID (PMCID) |
|---|
|
|
合計: 30
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0008551 | 小耳 | Very frequent (99-80%) |
| HP:0000023 | 鼠径ヘルニア | Frequent (79-30%) |
| HP:0000175 | 口蓋裂 | Frequent (79-30%) |
| HP:0000238 | 水頭症 | Frequent (79-30%) |
| HP:0000252 | 小頭 | Frequent (79-30%) |
| HP:0000347 | 小顎 | Frequent (79-30%) |
| HP:0000384 | 耳介前皮膚肉柱 | Frequent (79-30%) |
| HP:0000413 | 外耳道閉鎖 | Frequent (79-30%) |
| HP:0000582 | 眼瞼裂斜上 | Frequent (79-30%) |
| HP:0000932 | 後頭蓋窩の異常 | Frequent (79-30%) |
| HP:0001511 | 子宮内成長遅滞 | Frequent (79-30%) |
| HP:0001643 | 動脈管開存症 | Frequent (79-30%) |
| HP:0001647 | 二弁性大動脈弁 | Frequent (79-30%) |
| HP:0001650 | 大動脈弁狭窄 | Frequent (79-30%) |
| HP:0001710 | 円錐動脈幹奇形 | Frequent (79-30%) |
| HP:0001713 | 心室の異常 | Frequent (79-30%) |
| HP:0002020 | 胃食道逆流 | Frequent (79-30%) |
| HP:0004495 | 薄い上向きの鼻孔 | Frequent (79-30%) |
| HP:0005120 | 心房の異常 | Frequent (79-30%) |
| HP:0005301 | 持続性左上大静脈 | Frequent (79-30%) |
| HP:0008619 | 両側性感音難聴 | Frequent (79-30%) |
| HP:0008774 | 内耳無形成/低形成 | Frequent (79-30%) |
| HP:0008897 | 生後の成長遅滞 | Frequent (79-30%) |
| HP:0011342 | 軽度の全般性発達遅滞 | Frequent (79-30%) |
| HP:0011718 | 肺静脈の異常 | Frequent (79-30%) |
| HP:0011968 | 食餌摂取障害 | Frequent (79-30%) |
| HP:0012303 | 大動脈弓の異常 | Frequent (79-30%) |
| HP:0009892 | 無耳 | Occasional (29-5%) |
| HP:0001888 | リンパ球減少症 | Excluded (0%) |
| HP:0002901 | 低カルシウム血症 | Excluded (0%) |
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 |
|---|