| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
27343326 |
Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction. Chen CP, Ko TM, Huang WC, Chern SR, Wu PS, Chen YN, Chen SW, Lee CC, Pan CW, Yang CW, Wang W. Taiwan J Obstet Gynecol. 2016;55(3):415-8. |
| 羊水過多 | ||
| GATA4 INVS SOX7 | ||
| ヒト ヒト8番染色体 出生前超音波検査 女 妊娠 左心低形成症候群 新生児 染色体欠失 染色体重複 水頭症 羊水過多 腸閉塞 若年成人 |
合計: 56
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000154 | 幅広い口 | Very frequent (99-80%) |
| HP:0000232 | 下口唇唇紅部外反 | Very frequent (99-80%) |
| HP:0000400 | 大耳 | Very frequent (99-80%) |
| HP:0000463 | 上向きの鼻孔 | Very frequent (99-80%) |
| HP:0000750 | 発語および言語発達遅延 | Very frequent (99-80%) |
| HP:0000767 | 漏斗胸 | Very frequent (99-80%) |
| HP:0001249 | 知的障害 | Very frequent (99-80%) |
| HP:0001256 | 知的障害, 軽度 | Very frequent (99-80%) |
| HP:0001263 | 全般性発達遅滞 | Very frequent (99-80%) |
| HP:0001276 | 筋緊張亢進 | Very frequent (99-80%) |
| HP:0001999 | 異常な顔の形 | Very frequent (99-80%) |
| HP:0002292 | 前頭部禿頭 | Very frequent (99-80%) |
| HP:0002510 | 痙性四肢麻痺 | Very frequent (99-80%) |
| HP:0002916 | 染色体分離の異常 | Very frequent (99-80%) |
| HP:0008947 | 乳児筋性筋緊張低下 | Very frequent (99-80%) |
| HP:0010864 | 知的障害, 重度 | Very frequent (99-80%) |
| HP:0011220 | 目立つ額 | Very frequent (99-80%) |
| HP:0011344 | 重度の全般性発達遅滞 | Very frequent (99-80%) |
| HP:0000079 | 尿路異常 | Frequent (79-30%) |
| HP:0000311 | 丸い顔 | Frequent (79-30%) |
| HP:0000343 | 長い人中 | Frequent (79-30%) |
| HP:0000431 | 幅広い鼻梁 | Frequent (79-30%) |
| HP:0000478 | 眼の異常 | Frequent (79-30%) |
| HP:0000717 | 自閉症 | Frequent (79-30%) |
| HP:0000729 | 自閉性行動 | Frequent (79-30%) |
| HP:0001274 | 脳梁無発生 | Frequent (79-30%) |
| HP:0001627 | 心形態の異常 | Frequent (79-30%) |
| HP:0004209 | 第5指弯指 | Frequent (79-30%) |
| HP:0005656 | 足位置異常 | Frequent (79-30%) |
| HP:0007018 | 注意力欠陥多動性疾患 | Frequent (79-30%) |
| HP:0007020 | 進行性痙性対麻痺 | Frequent (79-30%) |
| HP:0100710 | 衝動性 | Frequent (79-30%) |
| HP:0100807 | 長い指 | Frequent (79-30%) |
| HP:0000028 | 停留精巣 | Occasional (29-5%) |
| HP:0000054 | 小陰茎 | Occasional (29-5%) |
| HP:0000126 | 水腎症 | Occasional (29-5%) |
| HP:0000278 | 下顎後退 | Occasional (29-5%) |
| HP:0000316 | 両眼隔離 | Occasional (29-5%) |
| HP:0000347 | 小顎 | Occasional (29-5%) |
| HP:0000384 | 耳介前皮膚肉柱 | Occasional (29-5%) |
| HP:0000470 | 短い頸部 | Occasional (29-5%) |
| HP:0000592 | 青色強膜 | Occasional (29-5%) |
| HP:0000664 | 連続眉毛 | Occasional (29-5%) |
| HP:0000826 | 思春期早発 | Occasional (29-5%) |
| HP:0001250 | 発作 | Occasional (29-5%) |
| HP:0001305 | Dandy-Walker 奇形 | Occasional (29-5%) |
| HP:0001321 | 小脳低形成 | Occasional (29-5%) |
| HP:0001636 | Fallot 四徴症 | Occasional (29-5%) |
| HP:0001651 | 右胸心 | Occasional (29-5%) |
| HP:0002650 | 側弯 | Occasional (29-5%) |
| HP:0002705 | 高狭口蓋 | Occasional (29-5%) |
| HP:0002827 | 股関節脱臼 | Occasional (29-5%) |
| HP:0005781 | 大関節拘縮 | Occasional (29-5%) |
| HP:0006292 | 歯萌出異常 | Occasional (29-5%) |
| HP:0010487 | 小さい小指球隆起 | Occasional (29-5%) |
| HP:0011466 | 胆嚢無形成/低形成 | 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 |
|---|