合計: 61
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000028 | 停留精巣 | Very frequent (99-80%) |
| HP:0004322 | 低身長 | Very frequent (99-80%) |
| HP:0008968 | 下肢筋肥大 | Very frequent (99-80%) |
| HP:0012741 | 片側性停留精巣 | Very frequent (99-80%) |
| HP:0000027 | 無精子症 | Frequent (79-30%) |
| HP:0000033 | 性別不明の外性器, 男性 | Frequent (79-30%) |
| HP:0000047 | 尿道下裂 | Frequent (79-30%) |
| HP:0000054 | 小陰茎 | Frequent (79-30%) |
| HP:0000061 | 性別不明の外性器, 女性 | Frequent (79-30%) |
| HP:0000062 | 性別不明の外性器 | Frequent (79-30%) |
| HP:0000808 | 陰茎陰嚢尿道下裂 | Frequent (79-30%) |
| HP:0000812 | 内性器異常 | Frequent (79-30%) |
| HP:0000837 | ゴナドトロピン過剰症 | Frequent (79-30%) |
| HP:0003251 | 男性不妊 | Frequent (79-30%) |
| HP:0008689 | 両側性停留精巣 | Frequent (79-30%) |
| HP:0100779 | 泌尿生殖洞奇形 | Frequent (79-30%) |
| HP:0000039 | 尿道上裂 | Occasional (29-5%) |
| HP:0000041 | 尿道索 | Occasional (29-5%) |
| HP:0000045 | 陰嚢異常 | Occasional (29-5%) |
| HP:0000048 | 二分陰嚢 | Occasional (29-5%) |
| HP:0000077 | 腎異常 | Occasional (29-5%) |
| HP:0000085 | 馬蹄腎 | Occasional (29-5%) |
| HP:0000150 | 性腺芽細胞腫 | Occasional (29-5%) |
| HP:0000218 | 高口蓋 | Occasional (29-5%) |
| HP:0000286 | 内眼角贅皮 | Occasional (29-5%) |
| HP:0000347 | 小顎 | Occasional (29-5%) |
| HP:0000365 | 難聴 | Occasional (29-5%) |
| HP:0000368 | 低位の後方回転した耳介 | Occasional (29-5%) |
| HP:0000403 | 反復性中耳炎 | Occasional (29-5%) |
| HP:0000465 | 翼状頚 | Occasional (29-5%) |
| HP:0000505 | 視力障害 | Occasional (29-5%) |
| HP:0000639 | 眼振 | Occasional (29-5%) |
| HP:0000729 | 自閉性行動 | Occasional (29-5%) |
| HP:0000767 | 漏斗胸 | Occasional (29-5%) |
| HP:0000771 | 女性型乳房 | Occasional (29-5%) |
| HP:0000821 | 甲状腺機能低下症 | Occasional (29-5%) |
| HP:0000823 | 思春期遅発 | Occasional (29-5%) |
| HP:0001087 | 先天性緑内障 | Occasional (29-5%) |
| HP:0001256 | 知的障害, 軽度 | Occasional (29-5%) |
| HP:0001513 | 肥満 | Occasional (29-5%) |
| HP:0001647 | 二弁性大動脈弁 | Occasional (29-5%) |
| HP:0001649 | 頻拍 | Occasional (29-5%) |
| HP:0001657 | 遷延性 QT 間隔 | Occasional (29-5%) |
| HP:0001680 | 大動脈縮窄 | Occasional (29-5%) |
| HP:0001822 | 外反母趾 | Occasional (29-5%) |
| HP:0002162 | 後部毛髪線低位 | Occasional (29-5%) |
| HP:0002164 | 爪異形成 | Occasional (29-5%) |
| HP:0002442 | 計算障害 | Occasional (29-5%) |
| HP:0002564 | 心および大血管奇形 | Occasional (29-5%) |
| HP:0002650 | 側弯 | Occasional (29-5%) |
| HP:0002750 | 骨格骨化遅延 | Occasional (29-5%) |
| HP:0002967 | 外反肘 | Occasional (29-5%) |
| HP:0006610 | 幅広い乳頭間距離 | Occasional (29-5%) |
| HP:0010044 | 短い第4中手骨 | Occasional (29-5%) |
| HP:0010464 | 索状卵巣 | Occasional (29-5%) |
| HP:0010743 | 短い中足骨 | Occasional (29-5%) |
| HP:0012861 | 卵精巣 | Occasional (29-5%) |
| HP:0012887 | 卵巣漿液性嚢胞腺腫 | Occasional (29-5%) |
| HP:0030079 | Cervix cancer | Occasional (29-5%) |
| HP:0030680 | Abnormality of cardiovascular system morphology | Occasional (29-5%) |
| HP:0040171 | Decreased serum testosterone level | Occasional (29-5%) |
合計: 0
| HPO ID | 徴候・症状 | 症例報告数 |
|---|