| 順位 （類似度） |
PMID (PMCID) |
|---|
|
|
合計: 34
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000252 | 小頭 | Very frequent (99-80%) |
| HP:0000648 | 視神経萎縮 | Very frequent (99-80%) |
| HP:0001250 | 発作 | Very frequent (99-80%) |
| HP:0001276 | 筋緊張亢進 | Very frequent (99-80%) |
| HP:0008850 | 重度の生後の成長遅滞 | Very frequent (99-80%) |
| HP:0012715 | 最重度難聴 | Very frequent (99-80%) |
| HP:0000618 | 盲 | Frequent (79-30%) |
| HP:0001257 | 痙性 | Frequent (79-30%) |
| HP:0001518 | 在胎月齢より小さい児 | Frequent (79-30%) |
| HP:0002198 | 第4脳室拡大 | Frequent (79-30%) |
| HP:0002788 | 反復性上気道感染症 | Frequent (79-30%) |
| HP:0005486 | 小さい泉門 | Frequent (79-30%) |
| HP:0005949 | 乳児期の無呼吸エピソード | Frequent (79-30%) |
| HP:0010864 | 知的障害, 重度 | Frequent (79-30%) |
| HP:0012444 | 脳萎縮 | Frequent (79-30%) |
| HP:0040288 | Nasogastric tube feeding | Frequent (79-30%) |
| HP:0000076 | 膀胱尿管逆流 | Occasional (29-5%) |
| HP:0000239 | 大きな泉門 | Occasional (29-5%) |
| HP:0000347 | 小顎 | Occasional (29-5%) |
| HP:0000377 | 耳介の異常 | Occasional (29-5%) |
| HP:0000400 | 大耳 | Occasional (29-5%) |
| HP:0001199 | 三指節母指 | Occasional (29-5%) |
| HP:0001305 | Dandy-Walker 奇形 | Occasional (29-5%) |
| HP:0001321 | 小脳低形成 | Occasional (29-5%) |
| HP:0001336 | ミオクローヌス | Occasional (29-5%) |
| HP:0001374 | 先天性股関節脱臼 | Occasional (29-5%) |
| HP:0001629 | 心室中隔欠損 | Occasional (29-5%) |
| HP:0001838 | 揺り椅子状足底 | Occasional (29-5%) |
| HP:0001848 | 外反踵骨変形 | Occasional (29-5%) |
| HP:0003196 | 短い鼻 | Occasional (29-5%) |
| HP:0005781 | 大関節拘縮 | Occasional (29-5%) |
| HP:0006829 | 重度筋緊張低下 | Occasional (29-5%) |
| HP:0006956 | 側脳室拡大 | Occasional (29-5%) |
| HP:0008110 | 内反尖足変形 | 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 |
|---|