| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
22848023 |
De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum. Shimojima K, Okumura A, Mori H, Abe S, Ikeno M, Shimizu T, Yamamoto T. Am J Med Genet A. 2012;158A(9):2272-6. |
| 小頭 | ||
| MEF2C | ||
| MADSドメインタンパク質 MEF2転写因子 ヒト ヒト5番染色体 小頭症 幼児 攣縮 染色体欠失 男 磁気共鳴画像法 筋原性制御因子 脳梁 | ||
| 2 (17.5%) |
25876691 |
[Infantile spasm associated with 5q14.3 microdeletion syndrome: clinical and genetic characterization of a core family]. Yu D, Li S, Jiang N. Zhonghua Er Ke Za Zhi. 2015;53(2):140-2. |
| 筋緊張低下 | ||
| MEF2C | ||
| てんかん ヒト 女 妊娠 子供 新生児 染色体 染色体構造 染色体欠失 点頭てんかん 症候群 細胞遺伝学的分析 蛍光インサイツハイブリダイゼーション法 表現型 | ||
| 3 (4.0%) |
26161356 (4496521) |
MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report. Shim JS, Min K, Lee SH, Park JE, Park SH, Kim M, Shim SH. Ann Rehabil Med. 2015;39(3):482-7. |
| 知的障害 | ||
| MEF2C | ||
合計: 24
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000337 | 幅広い額 | Very frequent (99-80%) |
| HP:0000348 | 高い額 | Very frequent (99-80%) |
| HP:0000729 | 自閉性行動 | Very frequent (99-80%) |
| HP:0000750 | 発語および言語発達遅延 | Very frequent (99-80%) |
| HP:0001250 | 発作 | Very frequent (99-80%) |
| HP:0001252 | 筋緊張低下 | Very frequent (99-80%) |
| HP:0010864 | 知的障害, 重度 | Very frequent (99-80%) |
| HP:0000322 | 短い人中 | Frequent (79-30%) |
| HP:0000582 | 眼瞼裂斜上 | Frequent (79-30%) |
| HP:0000733 | 常同行動 | Frequent (79-30%) |
| HP:0002079 | 脳梁低形成 | Frequent (79-30%) |
| HP:0002119 | 脳室拡大 | Frequent (79-30%) |
| HP:0003196 | 短い鼻 | Frequent (79-30%) |
| HP:0012639 | 神経系形態の異常 | Frequent (79-30%) |
| HP:0000194 | 開口 | Occasional (29-5%) |
| HP:0000463 | 上向きの鼻孔 | Occasional (29-5%) |
| HP:0000486 | 斜視 | Occasional (29-5%) |
| HP:0000490 | 落ちくぼんだ眼 | Occasional (29-5%) |
| HP:0000574 | 分厚い眉毛 | Occasional (29-5%) |
| HP:0000609 | 視神経低形成 | Occasional (29-5%) |
| HP:0001770 | 合趾症 | Occasional (29-5%) |
| HP:0002335 | 小脳虫部無発生 | Occasional (29-5%) |
| HP:0006913 | 前頭葉皮質萎縮 | Occasional (29-5%) |
| HP:0011968 | 食餌摂取障害 | Occasional (29-5%) |
合計: 1
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0001249 | 知的障害 | 1 |