順位 (類似度) |
PMID (PMCID) |
|
---|---|---|
1 (23.3%) |
6147215 |
Mentally retarded siblings with congenital heart defect, peculiar facies and cryptorchidism in the male: possible McDonough syndrome with coincidental (X; 20) translocation. Garcia-Sagredo JM, Lozano C, Ferrando P, San Roman C. Clin Genet. 1984;26(2):117-24. |
停留精巣 後側弯 | ||
X染色体 ヒト ヒト染色体19-20番 停留精巣 先天性心疾患 女 子供 成人 男 症候群 知的障害 顔面 |
合計: 27
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000336 | 目立つ眼窩上縁 | Very frequent (99-80%) |
HP:0000400 | 大耳 | Very frequent (99-80%) |
HP:0000411 | 耳介聳立 | Very frequent (99-80%) |
HP:0000448 | 目立つ鼻 | Very frequent (99-80%) |
HP:0000486 | 斜視 | Very frequent (99-80%) |
HP:0000664 | 連続眉毛 | Very frequent (99-80%) |
HP:0001249 | 知的障害 | Very frequent (99-80%) |
HP:0002564 | 心および大血管奇形 | Very frequent (99-80%) |
HP:0002650 | 側弯 | Very frequent (99-80%) |
HP:0002808 | 後弯 | Very frequent (99-80%) |
HP:0004322 | 低身長 | Very frequent (99-80%) |
HP:0010318 | 腹壁筋無形成/低形成 | Very frequent (99-80%) |
HP:0010807 | 開放咬合 | Very frequent (99-80%) |
HP:0000028 | 停留精巣 | Frequent (79-30%) |
HP:0000174 | 口蓋の異常 | Frequent (79-30%) |
HP:0000303 | 下顎突出 | Frequent (79-30%) |
HP:0000316 | 両眼隔離 | Frequent (79-30%) |
HP:0000322 | 短い人中 | Frequent (79-30%) |
HP:0000347 | 小顎 | Frequent (79-30%) |
HP:0000368 | 低位の後方回転した耳介 | Frequent (79-30%) |
HP:0000430 | 鼻翼未発達 | Frequent (79-30%) |
HP:0000508 | 眼瞼下垂 | Frequent (79-30%) |
HP:0000689 | 不正咬合 | Frequent (79-30%) |
HP:0000767 | 漏斗胸 | Frequent (79-30%) |
HP:0004326 | 悪液質 (カヘキシー) | Frequent (79-30%) |
HP:0007598 | 両側性単一手掌横線 | Frequent (79-30%) |
HP:0012745 | 短い眼瞼裂 | Frequent (79-30%) |
合計: 1
HPO ID | 徴候・症状 | 症例報告数 |
---|---|---|
HP:0000028 | 停留精巣 | 1 |
合計: 0
Gene Symbol | 遺伝子名 | Entrez Gene ID |
---|