| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (60.5%) |
18950500 (2579916) |
Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report. Al Kaissi A, Ganger R, Klaushofer K, Grill F. Cases J. 2008;1(1):270. |
| 舌根沈下 小顎 | ||
| 2 (58.0%) |
813535 |
The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth. Haller JO, Berdon WE, Robinow M, Slovis TL, Baker DH, Johnson GF. Am J Roentgenol Radium Ther Nucl Med. 1975;125(4):936-43. |
| 小顎 ダンベル型大腿骨 | ||
| rs750006299 rs797044915 | ||
| Terminology as Topic ヒト ピエール・ロバン症候群 ムコ多糖症VI型 低身長症 増殖 女 妊娠 小顎症 新生児 男 鑑別診断 骨軟骨異形成症 | ||
| 3 (32.7%) |
7064999 |
The Weissenbacher-Zweymuller syndrome: possible neonatal expression of the Stickler syndrome. Kelly TE, Wells HH, Tuck KB. Am J Med Genet. 1982;11(1):113-9. |
| 近視 ダンベル型大腿骨 | ||
| Terminology as Topic ヒト 中年 優性遺伝子 女 子供（未就学） 小顎症 成人 新生児 男 症候群 網膜症 近視 骨 | ||
| 3 (32.7%) |
1415350 |
Weissenbacher-Zweymuller syndrome: a distinct autosomal recessive skeletal dysplasia. Chemke J, Carmi R, Galil A, Bar-Ziv Y, Ben-Ytzhak I, Zurkowski L. Am J Med Genet. 1992;43(6):989-95. |
| 網膜剥離 骨格異形成 骨幹端拡大 | ||
| ヒト 低身長症 劣性遺伝子 女 子供 子供（未就学） 男 症候群 発達性骨疾患 表現型 | ||
| 5 (27.8%) |
1358786 |
Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene. Bonaventure J, Philippe C, Plessis G, Vigneron J, Lasselin C, Maroteaux P, Gilgenkrantz S. Hum Genet. 1992;90(1-2):164-8. |
| Pierre-Robin シークェンス | ||
| COL2A1 | ||
| ヒト 低身長症 女 小顎症 幼児 新生児 男 症候群 網膜剥離 緑内障 近視 顔面 | ||
| 6 (21.2%) |
8456835 |
Identical twins with Weissenbacher-Zweymuller syndrome and neural tube defect. Ramer JC, Eggli K, Rogan PK, Ladda RL. Am J Med Genet. 1993;45(5):614-8. |
| 近視 骨格異形成 | ||
| ヒト 双子疾患 子供（未就学） 男 症候群 神経管閉鎖不全 表現型 近視 骨軟骨異形成症 |
合計: 21
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000162 | 舌根沈下 | Very frequent (99-80%) |
| HP:0000175 | 口蓋裂 | Very frequent (99-80%) |
| HP:0000277 | 下顎の異常 | Very frequent (99-80%) |
| HP:0000316 | 両眼隔離 | Very frequent (99-80%) |
| HP:0000347 | 小顎 | Very frequent (99-80%) |
| HP:0000405 | 伝音難聴 | Very frequent (99-80%) |
| HP:0000520 | 眼球突出 | Very frequent (99-80%) |
| HP:0000545 | 近視 | Very frequent (99-80%) |
| HP:0000750 | 発語および言語発達遅延 | Very frequent (99-80%) |
| HP:0000752 | 多動 | Very frequent (99-80%) |
| HP:0001252 | 筋緊張低下 | Very frequent (99-80%) |
| HP:0002194 | 粗大運動発達遅延 | Very frequent (99-80%) |
| HP:0003016 | 骨幹端拡大 | Very frequent (99-80%) |
| HP:0003097 | 短い大腿骨 | Very frequent (99-80%) |
| HP:0003417 | 冠状脊椎裂 | Very frequent (99-80%) |
| HP:0005280 | 落ちくぼんだ鼻梁 | Very frequent (99-80%) |
| HP:0007018 | 注意力欠陥多動性疾患 | Very frequent (99-80%) |
| HP:0008587 | 軽度の感音難聴 | Very frequent (99-80%) |
| HP:0008905 | 四肢近位短縮 | Very frequent (99-80%) |
| HP:0008936 | 体幹の筋緊張低下 | Very frequent (99-80%) |
| HP:0011819 | 粘膜下軟口蓋裂 | Very frequent (99-80%) |
合計: 4
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0002652 | 骨格異形成 | 2 |
| HP:0000347 | 小顎 | 1 |
| HP:0000926 | 扁平脊椎 | 1 |
| HP:0003016 | 骨幹端拡大 | 1 |