| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
22754240 (3385171) |
A child with mosaicism for deletion (14)(q11.2q13). Gamage TH, Godapitiya IU, Nanayakkara S, Jayasekara RW, Dissanayake VH. Indian J Hum Genet. 2012;18(1):130-3. |
| 小頭 | ||
| 2 (4.0%) |
25276227 (4180134) |
Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis. Salas-Labadia C, Lieberman E, Cruz-Alcivar R, Navarrete-Meneses P, Gomez S, Cantu-Reyna C, Buiting K, Duran-McKinster C, Perez-Vera P. Mol Cytogenet. 2014;7(1):65. |
| 低身長 | ||
| MEG3 | ||
合計: 25
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000232 | 下口唇唇紅部外反 | Very frequent (99-80%) |
| HP:0000316 | 両眼隔離 | Very frequent (99-80%) |
| HP:0000343 | 長い人中 | Very frequent (99-80%) |
| HP:0000368 | 低位の後方回転した耳介 | Very frequent (99-80%) |
| HP:0001256 | 知的障害, 軽度 | Very frequent (99-80%) |
| HP:0002263 | 誇張されたキューピッドの弓 | Very frequent (99-80%) |
| HP:0003196 | 短い鼻 | Very frequent (99-80%) |
| HP:0005280 | 落ちくぼんだ鼻梁 | Very frequent (99-80%) |
| HP:0011344 | 重度の全般性発達遅滞 | Very frequent (99-80%) |
| HP:0000160 | 狭い口 | Frequent (79-30%) |
| HP:0000218 | 高口蓋 | Frequent (79-30%) |
| HP:0000286 | 内眼角贅皮 | Frequent (79-30%) |
| HP:0000337 | 幅広い額 | Frequent (79-30%) |
| HP:0000340 | 額傾斜 | Frequent (79-30%) |
| HP:0000347 | 小顎 | Frequent (79-30%) |
| HP:0000490 | 落ちくぼんだ眼 | Frequent (79-30%) |
| HP:0000581 | 眼瞼裂狭小 | Frequent (79-30%) |
| HP:0000995 | メラニン細胞母斑 | Frequent (79-30%) |
| HP:0001629 | 心室中隔欠損 | Frequent (79-30%) |
| HP:0001643 | 動脈管開存症 | Frequent (79-30%) |
| HP:0001770 | 合趾症 | Frequent (79-30%) |
| HP:0001863 | 弯趾 | Frequent (79-30%) |
| HP:0002002 | 深い人中 | Frequent (79-30%) |
| HP:0002553 | 高位の弓形眉毛 | Frequent (79-30%) |
| HP:0005338 | 疎な外側眉毛 | Frequent (79-30%) |
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 |
|---|