| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (59.0%) |
2294952 |
[Two siblings with interstitial deletion of chromosome 14 [46 XX, del (14) (q12 q13.3)]]. Kodama M, Kai Y, Sugino S, Inokuchi N, Miike T. No To Hattatsu. 1990;22(1):61-5. |
| 丸い顔 小顎 | ||
| ヒト ヒト14番染色体 女 子供（未就学） 幼児 染色体欠失 知的障害 | ||
| 2 (30.8%) |
19303466 |
14q12 Microdeletion syndrome and congenital variant of Rett syndrome. Mencarelli MA, Kleefstra T, Katzaki E, Papa FT, Cohen M, Pfundt R, Ariani F, Meloni I, Mari F, Renieri A. Eur J Med Genet. 2009;52(2-3):148-52. |
| 眼瞼裂斜下 | ||
| FOXG1 | ||
| ヒト ヒト14番染色体 フォークヘッド転写因子 レット症候群 女 幼児 染色体欠失 症候群 神経組織タンパク質 顔面 |
合計: 29
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000232 | 下口唇唇紅部外反 | Very frequent (99-80%) |
| HP:0000252 | 小頭 | Very frequent (99-80%) |
| HP:0000286 | 内眼角贅皮 | Very frequent (99-80%) |
| HP:0000411 | 耳介聳立 | Very frequent (99-80%) |
| HP:0000414 | 球状の鼻 | Very frequent (99-80%) |
| HP:0000733 | 常同行動 | Very frequent (99-80%) |
| HP:0001252 | 筋緊張低下 | Very frequent (99-80%) |
| HP:0001344 | 発語欠損 | Very frequent (99-80%) |
| HP:0001510 | 成長遅滞 | Very frequent (99-80%) |
| HP:0002376 | 発達退行 | Very frequent (99-80%) |
| HP:0005280 | 落ちくぼんだ鼻梁 | Very frequent (99-80%) |
| HP:0009738 | 対耳輪の異常 | Very frequent (99-80%) |
| HP:0010804 | テント状上口唇唇紅部 | Very frequent (99-80%) |
| HP:0010864 | 知的障害, 重度 | Very frequent (99-80%) |
| HP:0011968 | 食餌摂取障害 | Very frequent (99-80%) |
| HP:0000158 | 巨舌 | Frequent (79-30%) |
| HP:0000303 | 下顎突出 | Frequent (79-30%) |
| HP:0000319 | 平坦な人中 | Frequent (79-30%) |
| HP:0000494 | 眼瞼裂斜下 | Frequent (79-30%) |
| HP:0000581 | 眼瞼裂狭小 | Frequent (79-30%) |
| HP:0001250 | 発作 | Frequent (79-30%) |
| HP:0001274 | 脳梁無発生 | Frequent (79-30%) |
| HP:0002020 | 胃食道逆流 | Frequent (79-30%) |
| HP:0002650 | 側弯 | Frequent (79-30%) |
| HP:0002808 | 後弯 | Frequent (79-30%) |
| HP:0003196 | 短い鼻 | Frequent (79-30%) |
| HP:0003781 | 誇張された唾液分泌 | Frequent (79-30%) |
| HP:0005487 | 目立つ前頭縫合隆起 | Frequent (79-30%) |
| HP:0100540 | 眼瞼浮腫 | Frequent (79-30%) |
合計: 0
| HPO ID | 徴候・症状 | 症例報告数 |
|---|