順位 (類似度) |
PMID (PMCID) |
---|
|
合計: 44
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000252 | 小頭 | Very frequent (99-80%) |
HP:0000365 | 難聴 | Very frequent (99-80%) |
HP:0000581 | 眼瞼裂狭小 | Very frequent (99-80%) |
HP:0001249 | 知的障害 | Very frequent (99-80%) |
HP:0001518 | 在胎月齢より小さい児 | Very frequent (99-80%) |
HP:0004322 | 低身長 | Very frequent (99-80%) |
HP:0000028 | 停留精巣 | Frequent (79-30%) |
HP:0000219 | 薄い上口唇唇紅部 | Frequent (79-30%) |
HP:0000272 | 平坦な頬 | Frequent (79-30%) |
HP:0000322 | 短い人中 | Frequent (79-30%) |
HP:0000325 | 三角形の顔 | Frequent (79-30%) |
HP:0000341 | 狭い額 | Frequent (79-30%) |
HP:0000358 | 耳介後方回転 | Frequent (79-30%) |
HP:0000378 | コップ状耳 | Frequent (79-30%) |
HP:0000414 | 球状の鼻 | Frequent (79-30%) |
HP:0000448 | 目立つ鼻 | Frequent (79-30%) |
HP:0000486 | 斜視 | Frequent (79-30%) |
HP:0000490 | 落ちくぼんだ眼 | Frequent (79-30%) |
HP:0000537 | 逆内眼角贅皮 | Frequent (79-30%) |
HP:0000545 | 近視 | Frequent (79-30%) |
HP:0000565 | 内斜視 | Frequent (79-30%) |
HP:0000639 | 眼振 | Frequent (79-30%) |
HP:0000648 | 視神経萎縮 | Frequent (79-30%) |
HP:0000750 | 発語および言語発達遅延 | Frequent (79-30%) |
HP:0000752 | 多動 | Frequent (79-30%) |
HP:0000767 | 漏斗胸 | Frequent (79-30%) |
HP:0001182 | 先細りの指 | Frequent (79-30%) |
HP:0001264 | 痙性両麻痺 | Frequent (79-30%) |
HP:0001274 | 脳梁無発生 | Frequent (79-30%) |
HP:0001290 | 全身性筋緊張低下 | Frequent (79-30%) |
HP:0001347 | 反射亢進 | Frequent (79-30%) |
HP:0001508 | 成長障害 (成長不全) | Frequent (79-30%) |
HP:0001510 | 成長遅滞 | Frequent (79-30%) |
HP:0002059 | 大脳萎縮 | Frequent (79-30%) |
HP:0002151 | 血清乳酸増加 | Frequent (79-30%) |
HP:0002162 | 後部毛髪線低位 | Frequent (79-30%) |
HP:0002370 | 協調運動不全 | Frequent (79-30%) |
HP:0002376 | 発達退行 | Frequent (79-30%) |
HP:0002828 | 多発性関節拘縮 | Frequent (79-30%) |
HP:0003199 | 筋量減少 | Frequent (79-30%) |
HP:0005280 | 落ちくぼんだ鼻梁 | Frequent (79-30%) |
HP:0007874 | アーモンド型眼瞼裂 | Frequent (79-30%) |
HP:0010804 | テント状上口唇唇紅部 | Frequent (79-30%) |
HP:0045025 | Narrow palpebral fissure | 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 |
---|