| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 6 (21.2%) |
15702131 |
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. Bremond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, Taine L, Lacombe D, Baumann C, Benzacken B, Verloes A. Eur J Hum Genet. 2005;13(4):409-13. |
| 白内障 多発性外骨症 | ||
| ALX4 EXT2 PAX6 PRPF31 WT1 | ||
| WAGR症候群 ヒト ヒト11番染色体 女 成人 染色体マッピング 症候群 肥満 遺伝子欠失 遺伝性多発性外骨腫 頭蓋顔面異骨症 | ||
| 6 (21.2%) |
12457403 |
Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion. Wuyts W, Roland D, Ludecke HJ, Wauters J, Foulon M, Van Hul W, Van Maldergem L. Am J Med Genet. 2002;113(4):326-32. |
| 多毛症 多発性外骨症 | ||
| EXT1 TRPS1 | ||
| N-アセチルグルコサミン転移酵素 てんかん ヒト ヒト11番染色体 ヒト8番染色体 ランガー・ギデオン症候群 多毛症 染色体欠失 男 知的障害 磁気共鳴画像法 脳 遺伝性多発性外骨腫 | ||
| 13 (4.0%) |
30797056 |
Hypertension in Potocki-Shaffer syndrome: A case report. Wissman SD, McCool C, Potocki L, Elenberg E. Eur J Med Genet. 2019;:. |
| 高血圧 | ||
| REN | ||
| ヒト ヒト11番染色体 ヘテロ接合体 レニン 外骨腫 女 染色体欠失 発達障害 表現型 遺伝性多発性外骨腫 配列欠損 | ||
| 13 (4.0%) |
19222835 (2649934) |
11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report. Almind GJ, Brondum-Nielsen K, Bangsgaard R, Baekgaard P, Gronskov K. Mol Cytogenet. 2009;2:6. |
| 白内障 | ||
| PAX6 WT1 | ||
合計: 23
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000248 | 短頭 | Very frequent (99-80%) |
| HP:0000286 | 内眼角贅皮 | Very frequent (99-80%) |
| HP:0000347 | 小顎 | Very frequent (99-80%) |
| HP:0000426 | 目立つ鼻梁 | Very frequent (99-80%) |
| HP:0000430 | 鼻翼未発達 | Very frequent (99-80%) |
| HP:0000437 | 落ちくぼんだ鼻尖 | Very frequent (99-80%) |
| HP:0000455 | 幅広い鼻尖 | Very frequent (99-80%) |
| HP:0001263 | 全般性発達遅滞 | Very frequent (99-80%) |
| HP:0004331 | 頭蓋骨骨化減少 | Very frequent (99-80%) |
| HP:0100777 | 外骨症 | Very frequent (99-80%) |
| HP:0000054 | 小陰茎 | Frequent (79-30%) |
| HP:0000322 | 短い人中 | Frequent (79-30%) |
| HP:0000486 | 斜視 | Frequent (79-30%) |
| HP:0000639 | 眼振 | Frequent (79-30%) |
| HP:0001250 | 発作 | Frequent (79-30%) |
| HP:0002697 | 頭頂孔 | Frequent (79-30%) |
| HP:0002714 | 口角下垂 | Frequent (79-30%) |
| HP:0000821 | 甲状腺機能低下症 | Occasional (29-5%) |
| HP:0000822 | 高血圧 | Occasional (29-5%) |
| HP:0000823 | 思春期遅発 | Occasional (29-5%) |
| HP:0001249 | 知的障害 | Occasional (29-5%) |
| HP:0001903 | 貧血 | Occasional (29-5%) |
| HP:0002667 | 腎芽腫 (Wilms 腫瘍) | Occasional (29-5%) |
合計: 11
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0002762 | 多発性外骨症 | 5 |
| HP:0001249 | 知的障害 | 3 |
| HP:0000518 | 白内障 | 1 |
| HP:0000526 | 無虹彩症 | 1 |
| HP:0000729 | 自閉性行動 | 1 |
| HP:0001250 | 発作 | 1 |
| HP:0001488 | 両側性眼瞼下垂 | 1 |
| HP:0001513 | 肥満 | 1 |
| HP:0002697 | 頭頂孔 | 1 |
| HP:0030431 | 骨軟骨腫 | 1 |
| HP:0100777 | 外骨症 | 1 |