| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (57.8%) |
18539002 |
Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: an array-based genotype-phenotype correlation and a comprehensive review of previously published cases. Davidsson J, Collin A, Olsson ME, Lundgren J, Soller M. Epilepsy Res. 2008;81(1):69-79. |
| 小頭 小顎 | ||
| SCN1A SRI | ||
| アレル不均衡 オリゴヌクレオチドアレイ配列解析 ゲノムワイド関連解析 デオキシリボ核酸 ナトリウムチャネル ヒト フローサイトメトリ 女 新生児 若年性ミオクローヌスてんかん 表現型 遺伝子型 遺伝子欠失 | ||
| 1 (57.8%) |
10440834 |
Two cases with interstitial deletions of chromosome 2 and sex reversal in one. Slavotinek A, Schwarz C, Getty JF, Stecko O, Goodman F, Kingston H. Am J Med Genet. 1999;86(1):75-81. |
| 小顎 | ||
| DLX1 DLX2 EVX2 HOXD@ | ||
| ヒト ヒト2番染色体 マイクロサテライト反復 女 子供 性分化異常 染色体欠失 生殖器 男 知的障害 表現型 | ||
| 3 (37.2%) |
9637421 |
Clinical outcomes of four patients with microdeletion in the long arm of chromosome 2. McMilin KD, Reiss JA, Brown MG, Black MH, Buckmaster DA, Durum CT, Gunter KA, Lawce HJ, Berry TL, Lamb OA, Olson CL, Weeks FF, Yoshitomi MJ, Jacky PB, Olson SB, Magenis RE. Am J Med Genet. 1998;78(1):36-43. |
| 短い頸部 | ||
| てんかん発作 ヒト ヒト2番染色体 女 子供 成人 染色体欠失 染色体異常 男 知的障害 経過観察 | ||
| 4 (31.0%) |
15662696 |
Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus. Bijlsma EK, Knegt AC, Bilardo CM, Goodman FR. Prenat Diagn. 2005;25(1):39-44. |
| 心室中隔欠損 裂足 乏指趾症 | ||
| SHFM5 | ||
| ハプロタイプ ヒト ヒト2番染色体 マイクロサテライト反復 優生手術 女 妊娠 成人 染色体検査 染色体欠失 男 羊水穿刺 足変形 | ||
| 5 (4.0%) |
19267418 (2680219) |
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment. Newbury DF, Warburton PC, Wilson N, Bacchelli E, Carone S, , Lamb JA, Maestrini E, Volpi EV, Mohammed S, Baird G, Monaco AP. Am J Med Genet A. 2009;149A(4):588-97. |
| 自閉症 | ||
| KCNJ3 | ||
| rs17642086 rs3111033 rs3111034 rs5835535 | ||
| DNA変異解析 Gタンパク質共役型内向き整流性カリウムチャネル バクテリア人工染色体 ヒト ヒト2番染色体 女 子供 染色体マッピング 染色体欠失 発達障害 自閉症性障害 蛍光インサイツハイブリダイゼーション法 表現型 |
合計: 28
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000175 | 口蓋裂 | Very frequent (99-80%) |
| HP:0000368 | 低位の後方回転した耳介 | Very frequent (99-80%) |
| HP:0000470 | 短い頸部 | Very frequent (99-80%) |
| HP:0000494 | 眼瞼裂斜下 | Very frequent (99-80%) |
| HP:0000525 | 虹彩の異常 | Very frequent (99-80%) |
| HP:0000708 | 行動異常 | Very frequent (99-80%) |
| HP:0001188 | 握り手 | Very frequent (99-80%) |
| HP:0001249 | 知的障害 | Very frequent (99-80%) |
| HP:0001250 | 発作 | Very frequent (99-80%) |
| HP:0001263 | 全般性発達遅滞 | Very frequent (99-80%) |
| HP:0001319 | 新生児筋緊張低下 | Very frequent (99-80%) |
| HP:0001508 | 成長障害 (成長不全) | Very frequent (99-80%) |
| HP:0001510 | 成長遅滞 | Very frequent (99-80%) |
| HP:0001518 | 在胎月齢より小さい児 | Very frequent (99-80%) |
| HP:0001770 | 合趾症 | Very frequent (99-80%) |
| HP:0010078 | 弾丸型母趾末節骨 | Very frequent (99-80%) |
| HP:0011344 | 重度の全般性発達遅滞 | Very frequent (99-80%) |
| HP:0100490 | 屈指 | Very frequent (99-80%) |
| HP:0100807 | 長い指 | Very frequent (99-80%) |
| HP:0000190 | 口腔小帯異常 | Frequent (79-30%) |
| HP:0000274 | 小さい顔 | Frequent (79-30%) |
| HP:0000316 | 両眼隔離 | Frequent (79-30%) |
| HP:0000322 | 短い人中 | Frequent (79-30%) |
| HP:0000518 | 白内障 | Frequent (79-30%) |
| HP:0000568 | 小眼球 | Frequent (79-30%) |
| HP:0000589 | コロボーマ | Frequent (79-30%) |
| HP:0000729 | 自閉性行動 | Frequent (79-30%) |
| HP:0002871 | 中枢性無呼吸 | Occasional (29-5%) |
合計: 0
| HPO ID | 徴候・症状 | 症例報告数 |
|---|