| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (48.8%) |
24214579 |
Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: causal or chance association. Gupta R, Agarwal M, Boqqula VR, Phadke RV, Phadke SR. Am J Med Genet A. 2014;164A(1):186-9. |
| 小頭 軸前性多指趾症 | ||
| COX20 HNRNPU SHH | ||
| てんかん てんかん発作 ヒト ヒト1番染色体 先天性足変形 女 子供（未就学） 染色体欠失 片麻痺 症候群 磁気共鳴画像法 脳 表現型 顔貌 | ||
| 2 (4.0%) |
9856570 |
Association of terminal chromosome 1 deletion with sertoli cell-only syndrome. Hathout EH, Thompson K, Baum M, Dumars KW. Am J Med Genet. 1998;80(4):396-8. |
| 停留精巣 | ||
| ヒト ヒト1番染色体 成人 染色体欠失 男 症候群 発達障害 |
合計: 33
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000233 | 薄い唇紅部縁 | Very frequent (99-80%) |
| HP:0000750 | 発語および言語発達遅延 | Very frequent (99-80%) |
| HP:0001252 | 筋緊張低下 | Very frequent (99-80%) |
| HP:0001263 | 全般性発達遅滞 | Very frequent (99-80%) |
| HP:0001274 | 脳梁無発生 | Very frequent (99-80%) |
| HP:0002069 | 全身性間代性強直性発作 | Very frequent (99-80%) |
| HP:0002263 | 誇張されたキューピッドの弓 | Very frequent (99-80%) |
| HP:0010864 | 知的障害, 重度 | Very frequent (99-80%) |
| HP:0000252 | 小頭 | Frequent (79-30%) |
| HP:0000286 | 内眼角贅皮 | Frequent (79-30%) |
| HP:0000316 | 両眼隔離 | Frequent (79-30%) |
| HP:0000319 | 平坦な人中 | Frequent (79-30%) |
| HP:0000347 | 小顎 | Frequent (79-30%) |
| HP:0000486 | 斜視 | Frequent (79-30%) |
| HP:0000506 | 内眼角外方偏位 | Frequent (79-30%) |
| HP:0000582 | 眼瞼裂斜上 | Frequent (79-30%) |
| HP:0001510 | 成長遅滞 | Frequent (79-30%) |
| HP:0001671 | 心中隔 | Frequent (79-30%) |
| HP:0002119 | 脳室拡大 | Frequent (79-30%) |
| HP:0004322 | 低身長 | Frequent (79-30%) |
| HP:0000076 | 膀胱尿管逆流 | Occasional (29-5%) |
| HP:0000085 | 馬蹄腎 | Occasional (29-5%) |
| HP:0000218 | 高口蓋 | Occasional (29-5%) |
| HP:0000238 | 水頭症 | Occasional (29-5%) |
| HP:0000348 | 高い額 | Occasional (29-5%) |
| HP:0000384 | 耳介前皮膚肉柱 | Occasional (29-5%) |
| HP:0000664 | 連続眉毛 | Occasional (29-5%) |
| HP:0002007 | 前頭突出, 額突出 | Occasional (29-5%) |
| HP:0002566 | 腸回転異常 | Occasional (29-5%) |
| HP:0002650 | 側弯 | Occasional (29-5%) |
| HP:0004422 | 両頭頂径狭小 | Occasional (29-5%) |
| HP:0005487 | 目立つ前頭縫合隆起 | Occasional (29-5%) |
| HP:0007766 | 視神経杯低形成 | Occasional (29-5%) |
合計: 2
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0000028 | 停留精巣 | 1 |
| HP:0001250 | 発作 | 1 |