順位 (類似度) |
PMID (PMCID) |
---|
|
合計: 33
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000194 | 開口 | Frequent (79-30%) |
HP:0000268 | 長頭 | Frequent (79-30%) |
HP:0000289 | 幅広い人中 | Frequent (79-30%) |
HP:0000322 | 短い人中 | Frequent (79-30%) |
HP:0000338 | 仮面顔 | Frequent (79-30%) |
HP:0000341 | 狭い額 | Frequent (79-30%) |
HP:0000347 | 小顎 | Frequent (79-30%) |
HP:0000411 | 耳介聳立 | Frequent (79-30%) |
HP:0000446 | 狭い鼻梁 | Frequent (79-30%) |
HP:0000455 | 幅広い鼻尖 | Frequent (79-30%) |
HP:0000752 | 多動 | Frequent (79-30%) |
HP:0000960 | 仙骨部陥凹 | Frequent (79-30%) |
HP:0001263 | 全般性発達遅滞 | Frequent (79-30%) |
HP:0001290 | 全身性筋緊張低下 | Frequent (79-30%) |
HP:0001319 | 新生児筋緊張低下 | Frequent (79-30%) |
HP:0001618 | 発音障害 | Frequent (79-30%) |
HP:0002015 | 嚥下障害 | Frequent (79-30%) |
HP:0002553 | 高位の弓形眉毛 | Frequent (79-30%) |
HP:0002705 | 高狭口蓋 | Frequent (79-30%) |
HP:0010804 | テント状上口唇唇紅部 | Frequent (79-30%) |
HP:0011081 | 切歯巨大歯 | Frequent (79-30%) |
HP:0011968 | 食餌摂取障害 | Frequent (79-30%) |
HP:0012471 | 分厚い唇紅部縁 | Frequent (79-30%) |
HP:0030197 | Fatigable weakness of skeletal muscles | Frequent (79-30%) |
HP:0030200 | Fatiguable weakness of proximal limb muscles | Frequent (79-30%) |
HP:0040288 | Nasogastric tube feeding | Frequent (79-30%) |
HP:0001284 | 無反射 | Occasional (29-5%) |
HP:0001308 | 舌線維束性収縮 | Occasional (29-5%) |
HP:0005060 | 肘屈曲/伸展制限 | Occasional (29-5%) |
HP:0005879 | 先天性指屈曲拘縮 | Occasional (29-5%) |
HP:0007002 | 運動性軸索ニューロパチー | Occasional (29-5%) |
HP:0007269 | 脊髄性筋萎縮 | Occasional (29-5%) |
HP:0008366 | 足関節の拘縮 | Occasional (29-5%) |
合計: 0
HPO ID | 徴候・症状 | 症例報告数 |
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