| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (37.2%) |
24039145 |
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome. Dikoglu E, Simsek-Kiper PO, Utine GE, Campos-Xavier B, Boduroglu K, Bonafe L, Superti-Furga A, Unger S. Am J Med Genet A. 2013;161A(12):3161-5. |
| 短い頸部 | ||
| TBX15 | ||
| c|SUB|C|841|T;RS#:771021441 p|SUB|R|281|* | ||
| Tボックスドメインタンパク質 ナンセンスコドン ヒト ホモ接合体 低身長症 変異 女 成人 肩 表現型 骨形成不全 骨盤 | ||
| 2 (4.0%) |
19068278 |
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. Lausch E, Hermanns P, Farin HF, Alanay Y, Unger S, Nikkel S, Steinwender C, Scherer G, Spranger J, Zabel B, Kispert A, Superti-Furga A. Am J Hum Genet. 2008;83(5):649-55. |
| 低身長 | ||
| TBX15 | ||
| Tボックスドメインタンパク質 ヒト ミスセンス変異 変異 女 子供 症候群 若年成人 身長 頭蓋顔面奇形 骨盤 |
合計: 24
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000256 | 大頭 | Obligate (100%) |
| HP:0000470 | 短い頸部 | Obligate (100%) |
| HP:0000882 | 肩甲骨低形成 | Obligate (100%) |
| HP:0000946 | 腸骨低形成 | Obligate (100%) |
| HP:0001156 | 短指症候群 | Obligate (100%) |
| HP:0001374 | 先天性股関節脱臼 | Obligate (100%) |
| HP:0002987 | 肘屈曲拘縮 | Obligate (100%) |
| HP:0003041 | 上腕骨橈骨癒合 | Obligate (100%) |
| HP:0003097 | 短い大腿骨 | Obligate (100%) |
| HP:0003943 | 肘関節腔の異常 | Obligate (100%) |
| HP:0004987 | 四肢中部短縮性下肢短縮 | Obligate (100%) |
| HP:0000369 | 耳介低位 | Very frequent (99-80%) |
| HP:0002693 | 頭蓋底の異常 | Very frequent (99-80%) |
| HP:0004322 | 低身長 | Very frequent (99-80%) |
| HP:0000316 | 両眼隔離 | Frequent (79-30%) |
| HP:0000365 | 難聴 | Frequent (79-30%) |
| HP:0000377 | 耳介の異常 | Frequent (79-30%) |
| HP:0000402 | 外耳道狭窄 | Frequent (79-30%) |
| HP:0000486 | 斜視 | Frequent (79-30%) |
| HP:0000490 | 落ちくぼんだ眼 | Frequent (79-30%) |
| HP:0000581 | 眼瞼裂狭小 | Frequent (79-30%) |
| HP:0002007 | 前頭突出, 額突出 | Frequent (79-30%) |
| HP:0002162 | 後部毛髪線低位 | Frequent (79-30%) |
| HP:0005989 | 豊富な頸部皮膚 | Frequent (79-30%) |
合計: 2
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0004322 | 低身長 | 1 |
| HP:0005775 | 多発性骨格奇形 | 1 |