順位 (類似度) |
PMID (PMCID) |
---|
|
合計: 37
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000028 | 停留精巣 | Frequent (79-30%) |
HP:0000062 | 性別不明の外性器 | Frequent (79-30%) |
HP:0000215 | 分厚い上口唇唇紅部 | Frequent (79-30%) |
HP:0000218 | 高口蓋 | Frequent (79-30%) |
HP:0000252 | 小頭 | Frequent (79-30%) |
HP:0000286 | 内眼角贅皮 | Frequent (79-30%) |
HP:0000347 | 小顎 | Frequent (79-30%) |
HP:0000400 | 大耳 | Frequent (79-30%) |
HP:0000431 | 幅広い鼻梁 | Frequent (79-30%) |
HP:0001249 | 知的障害 | Frequent (79-30%) |
HP:0001252 | 筋緊張低下 | Frequent (79-30%) |
HP:0001263 | 全般性発達遅滞 | Frequent (79-30%) |
HP:0001276 | 筋緊張亢進 | Frequent (79-30%) |
HP:0002060 | 大脳の異常 | Frequent (79-30%) |
HP:0002079 | 脳梁低形成 | Frequent (79-30%) |
HP:0002365 | 脳幹低形成 | Frequent (79-30%) |
HP:0002380 | 線維束性収縮 | Frequent (79-30%) |
HP:0002500 | 大脳白質の異常 | Frequent (79-30%) |
HP:0003202 | 筋萎縮 | Frequent (79-30%) |
HP:0006955 | オリーブ核橋小脳低形成 | Frequent (79-30%) |
HP:0030197 | Fatigable weakness of skeletal muscles | Frequent (79-30%) |
HP:0000054 | 小陰茎 | Occasional (29-5%) |
HP:0000133 | 性腺異発生 | Occasional (29-5%) |
HP:0000151 | 子宮無形成 | Occasional (29-5%) |
HP:0000582 | 眼瞼裂斜上 | Occasional (29-5%) |
HP:0000639 | 眼振 | Occasional (29-5%) |
HP:0000648 | 視神経萎縮 | Occasional (29-5%) |
HP:0001250 | 発作 | Occasional (29-5%) |
HP:0001257 | 痙性 | Occasional (29-5%) |
HP:0001336 | ミオクローヌス | Occasional (29-5%) |
HP:0001347 | 反射亢進 | Occasional (29-5%) |
HP:0004305 | 不随意運動 | Occasional (29-5%) |
HP:0005280 | 落ちくぼんだ鼻梁 | Occasional (29-5%) |
HP:0008665 | 陰核肥大 | Occasional (29-5%) |
HP:0012856 | 陰嚢ヒダ異常 | Occasional (29-5%) |
HP:0030260 | Microphallus | Occasional (29-5%) |
HP:0030261 | Absent penis | Occasional (29-5%) |
合計: 0
HPO ID | 徴候・症状 | 症例報告数 |
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