| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
19108857 |
[Cerebromediastinal tuberculosis in a child with a probable Say-Barber-Miller syndrome: a causative link?]. Kechaou I, Rouissi A, Kraoua I, Regayeg A, Turki I, Ben Hamouda M, Gouider-Khouja N. Rev Neurol (Paris). 2009;165(12):1111-6. |
| 小頭 | ||
| ヒト 女 子供 男 症候群 知的障害 結核腫 身体醜形障害 鑑別診断 顔面 食欲不振 |
合計: 57
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000252 | 小頭 | Very frequent (99-80%) |
| HP:0001263 | 全般性発達遅滞 | Very frequent (99-80%) |
| HP:0001999 | 異常な顔の形 | Very frequent (99-80%) |
| HP:0005432 | 一過性hypogammaglobulinemia of infancy | Very frequent (99-80%) |
| HP:0000135 | 性腺機能低下症 | Frequent (79-30%) |
| HP:0000218 | 高口蓋 | Frequent (79-30%) |
| HP:0000340 | 額傾斜 | Frequent (79-30%) |
| HP:0000347 | 小顎 | Frequent (79-30%) |
| HP:0000400 | 大耳 | Frequent (79-30%) |
| HP:0000411 | 耳介聳立 | Frequent (79-30%) |
| HP:0000426 | 目立つ鼻梁 | Frequent (79-30%) |
| HP:0000444 | 凸の鼻梁 | Frequent (79-30%) |
| HP:0000750 | 発語および言語発達遅延 | Frequent (79-30%) |
| HP:0001363 | Craniosynostosis | Frequent (79-30%) |
| HP:0002650 | 側弯 | Frequent (79-30%) |
| HP:0002654 | 多発性骨端異形成 | Frequent (79-30%) |
| HP:0002987 | 肘屈曲拘縮 | Frequent (79-30%) |
| HP:0003065 | 膝蓋骨低形成 | Frequent (79-30%) |
| HP:0004313 | 低ガンマグロブリン血症 | Frequent (79-30%) |
| HP:0005001 | 反復性膝蓋骨脱臼 | Frequent (79-30%) |
| HP:0006380 | 膝屈曲拘縮 | Frequent (79-30%) |
| HP:0012219 | 結節性紅斑 | Frequent (79-30%) |
| HP:0012490 | 脂肪織炎 | Frequent (79-30%) |
| HP:0040238 | Impaired neutrophil chemotaxis | Frequent (79-30%) |
| HP:0000028 | 停留精巣 | Occasional (29-5%) |
| HP:0000233 | 薄い唇紅部縁 | Occasional (29-5%) |
| HP:0000316 | 両眼隔離 | Occasional (29-5%) |
| HP:0000368 | 低位の後方回転した耳介 | Occasional (29-5%) |
| HP:0000455 | 幅広い鼻尖 | Occasional (29-5%) |
| HP:0000490 | 落ちくぼんだ眼 | Occasional (29-5%) |
| HP:0000510 | 色素性網膜炎 | Occasional (29-5%) |
| HP:0000582 | 眼瞼裂斜上 | Occasional (29-5%) |
| HP:0000608 | 黄斑変性 | Occasional (29-5%) |
| HP:0000648 | 視神経萎縮 | Occasional (29-5%) |
| HP:0000670 | 齲歯 | Occasional (29-5%) |
| HP:0000692 | 歯不正配列 | Occasional (29-5%) |
| HP:0000964 | 湿疹 | Occasional (29-5%) |
| HP:0001007 | 多毛 | Occasional (29-5%) |
| HP:0001193 | 手または指の尺側偏位 | Occasional (29-5%) |
| HP:0001583 | 回転性眼振 | Occasional (29-5%) |
| HP:0001772 | 外反尖足 | Occasional (29-5%) |
| HP:0002313 | 痙性対不全麻痺 | Occasional (29-5%) |
| HP:0002553 | 高位の弓形眉毛 | Occasional (29-5%) |
| HP:0002827 | 股関節脱臼 | Occasional (29-5%) |
| HP:0002843 | T 細胞の異常 | Occasional (29-5%) |
| HP:0003487 | Babinski サイン | Occasional (29-5%) |
| HP:0004315 | IgG欠乏症 | Occasional (29-5%) |
| HP:0004322 | 低身長 | Occasional (29-5%) |
| HP:0005659 | 胸部後側弯 | Occasional (29-5%) |
| HP:0006895 | 下肢筋緊張亢進 | Occasional (29-5%) |
| HP:0007034 | 全身性反射亢進 | Occasional (29-5%) |
| HP:0007105 | 乳児脳症 | Occasional (29-5%) |
| HP:0009553 | 毛髪線の異常 | Occasional (29-5%) |
| HP:0011431 | 胎児第5指弯指 | Occasional (29-5%) |
| HP:0011448 | 足クローヌス | Occasional (29-5%) |
| HP:0031008 | Lingual dystonia | Occasional (29-5%) |
| HP:0045075 | Sparse eyebrow | 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 |
|---|