| 順位 （類似度） |
PMID (PMCID) |
|---|
|
|
合計: 36
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0001249 | 知的障害 | Very frequent (99-80%) |
| HP:0001263 | 全般性発達遅滞 | Very frequent (99-80%) |
| HP:0008936 | 体幹の筋緊張低下 | Very frequent (99-80%) |
| HP:0001257 | 痙性 | Frequent (79-30%) |
| HP:0002064 | 痙性歩行 | Frequent (79-30%) |
| HP:0002151 | 血清乳酸増加 | Frequent (79-30%) |
| HP:0002465 | 発語不全 | Frequent (79-30%) |
| HP:0003477 | 末梢神経軸索ニューロパチー | Frequent (79-30%) |
| HP:0007210 | 下肢筋萎縮 | Frequent (79-30%) |
| HP:0000028 | 停留精巣 | Occasional (29-5%) |
| HP:0000276 | 長い顔 | Occasional (29-5%) |
| HP:0000303 | 下顎突出 | Occasional (29-5%) |
| HP:0000347 | 小顎 | Occasional (29-5%) |
| HP:0000348 | 高い額 | Occasional (29-5%) |
| HP:0000490 | 落ちくぼんだ眼 | Occasional (29-5%) |
| HP:0000518 | 白内障 | Occasional (29-5%) |
| HP:0000545 | 近視 | Occasional (29-5%) |
| HP:0000565 | 内斜視 | Occasional (29-5%) |
| HP:0000582 | 眼瞼裂斜上 | Occasional (29-5%) |
| HP:0000609 | 視神経低形成 | Occasional (29-5%) |
| HP:0000639 | 眼振 | Occasional (29-5%) |
| HP:0000648 | 視神経萎縮 | Occasional (29-5%) |
| HP:0000768 | はと胸 | Occasional (29-5%) |
| HP:0000823 | 思春期遅発 | Occasional (29-5%) |
| HP:0001272 | 小脳萎縮 | Occasional (29-5%) |
| HP:0001385 | 股関節異形成 | Occasional (29-5%) |
| HP:0001639 | 肥大型心筋症 | Occasional (29-5%) |
| HP:0002066 | 歩行失調 | Occasional (29-5%) |
| HP:0002360 | 睡眠障害 | Occasional (29-5%) |
| HP:0002650 | 側弯 | Occasional (29-5%) |
| HP:0003196 | 短い鼻 | Occasional (29-5%) |
| HP:0003535 | 3-メチルグルタコン酸尿症 | Occasional (29-5%) |
| HP:0005656 | 足位置異常 | Occasional (29-5%) |
| HP:0011968 | 食餌摂取障害 | Occasional (29-5%) |
| HP:0001250 | 発作 | Very rare (4-1%) |
| HP:0007957 | 角膜混濁 | Very rare (4-1%) |
合計: 0
| HPO ID | 徴候・症状 | 症例報告数 |
|---|