| 順位 （類似度） |
PMID (PMCID) |
|---|
|
|
合計: 63
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000277 | 下顎の異常 | Very frequent (99-80%) |
| HP:0000298 | 仮面様顔貌 | Very frequent (99-80%) |
| HP:0000324 | 顔面非対称 | Very frequent (99-80%) |
| HP:0000343 | 長い人中 | Very frequent (99-80%) |
| HP:0000358 | 耳介後方回転 | Very frequent (99-80%) |
| HP:0000465 | 翼状頚 | Very frequent (99-80%) |
| HP:0001182 | 先細りの指 | Very frequent (99-80%) |
| HP:0001357 | 斜頭 | Very frequent (99-80%) |
| HP:0001762 | 内反尖足 | Very frequent (99-80%) |
| HP:0001840 | 内転中足骨 | Very frequent (99-80%) |
| HP:0002650 | 側弯 | Very frequent (99-80%) |
| HP:0002804 | 先天性多発性関節拘縮 | Very frequent (99-80%) |
| HP:0003202 | 筋萎縮 | Very frequent (99-80%) |
| HP:0005487 | 目立つ前頭縫合隆起 | Very frequent (99-80%) |
| HP:0005988 | 先天性筋性斜頚 | Very frequent (99-80%) |
| HP:0009465 | 指の尺側偏位 | Very frequent (99-80%) |
| HP:0100490 | 屈指 | Very frequent (99-80%) |
| HP:0000028 | 停留精巣 | Frequent (79-30%) |
| HP:0000046 | 陰嚢低形成 | Frequent (79-30%) |
| HP:0000160 | 狭い口 | Frequent (79-30%) |
| HP:0000175 | 口蓋裂 | Frequent (79-30%) |
| HP:0000405 | 伝音難聴 | Frequent (79-30%) |
| HP:0000426 | 目立つ鼻梁 | Frequent (79-30%) |
| HP:0000494 | 眼瞼裂斜下 | Frequent (79-30%) |
| HP:0000508 | 眼瞼下垂 | Frequent (79-30%) |
| HP:0000601 | 両眼接近 | Frequent (79-30%) |
| HP:0000767 | 漏斗胸 | Frequent (79-30%) |
| HP:0001166 | くも指 | Frequent (79-30%) |
| HP:0001611 | 鼻声発語 | Frequent (79-30%) |
| HP:0002047 | 悪性高体温症 | Frequent (79-30%) |
| HP:0002714 | 口角下垂 | Frequent (79-30%) |
| HP:0003510 | 重度の低身長 | Frequent (79-30%) |
| HP:0006610 | 幅広い乳頭間距離 | Frequent (79-30%) |
| HP:0009775 | 羊膜絞扼輪 | Frequent (79-30%) |
| HP:0011302 | 長い手掌 | Frequent (79-30%) |
| HP:0012370 | 頬骨突出 | Frequent (79-30%) |
| HP:0012400 | アルドラーゼ値異常 | Frequent (79-30%) |
| HP:0040081 | Abnormal circulating creatine kinase concentration | Frequent (79-30%) |
| HP:0045040 | Abnormal lactate dehydrogenase activity | Frequent (79-30%) |
| HP:0000023 | 鼠径ヘルニア | Occasional (29-5%) |
| HP:0000187 | 幅広い歯槽隆起 | Occasional (29-5%) |
| HP:0000268 | 長頭 | Occasional (29-5%) |
| HP:0000293 | 大きな頬 | Occasional (29-5%) |
| HP:0000340 | 額傾斜 | Occasional (29-5%) |
| HP:0000520 | 眼球突出 | Occasional (29-5%) |
| HP:0000772 | 肋骨の異常 | Occasional (29-5%) |
| HP:0001252 | 筋緊張低下 | Occasional (29-5%) |
| HP:0001557 | 出生前の運動異常 | Occasional (29-5%) |
| HP:0001561 | 羊水過多 | Occasional (29-5%) |
| HP:0001804 | 指爪低形成 | Occasional (29-5%) |
| HP:0001812 | 凸の指爪 | Occasional (29-5%) |
| HP:0002094 | 呼吸困難 | Occasional (29-5%) |
| HP:0002263 | 誇張されたキューピッドの弓 | Occasional (29-5%) |
| HP:0002808 | 後弯 | Occasional (29-5%) |
| HP:0005306 | 毛細血管血管腫 | Occasional (29-5%) |
| HP:0006101 | 合指症 | Occasional (29-5%) |
| HP:0006288 | 歯萌出促進 | Occasional (29-5%) |
| HP:0008402 | 隆起した指爪 | Occasional (29-5%) |
| HP:0010733 | 眼瞼の火炎状母斑 | Occasional (29-5%) |
| HP:0011800 | 顔面中部後退 | Occasional (29-5%) |
| HP:0040036 | Onychogryposis of fingernail | Occasional (29-5%) |
| HP:0100556 | 片側萎縮 | Occasional (29-5%) |
| HP:0100798 | 指爪異形成 | 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 |
|---|