順位 (類似度) |
PMID (PMCID) |
|
---|---|---|
1 (51.2%) |
14556253 |
Craniofacial-deafness-hand syndrome revisited. Sommer A, Bartholomew DW. Am J Med Genet A. 2003;123A(1):91-4. |
落ちくぼんだ鼻梁 手の尺側偏位 | ||
PAX3 | ||
p|SUB|N|47|K;RS#:104893652 | ||
DNA結合タンパク質 PAX3転写因子 ヒト ペアードボックス転写因子 ミスセンス変異 女 子供 子供(未就学) 幼児 成人 男 症候群 経過観察 聴覚消失 頭蓋顔面奇形 |
合計: 17
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000160 | 狭い口 | Very frequent (99-80%) |
HP:0000275 | 狭い顔 | Very frequent (99-80%) |
HP:0000316 | 両眼隔離 | Very frequent (99-80%) |
HP:0000327 | 上顎低形成 | Very frequent (99-80%) |
HP:0000407 | 感音難聴 | Very frequent (99-80%) |
HP:0000457 | 落ちくぼんだ鼻梁 | Very frequent (99-80%) |
HP:0000494 | 眼瞼裂斜下 | Very frequent (99-80%) |
HP:0000564 | 涙管閉鎖 | Very frequent (99-80%) |
HP:0000581 | 眼瞼裂狭小 | Very frequent (99-80%) |
HP:0003019 | 手関節の異常 | Very frequent (99-80%) |
HP:0003049 | 手関節の尺側偏位 | Very frequent (99-80%) |
HP:0003196 | 短い鼻 | Very frequent (99-80%) |
HP:0005280 | 落ちくぼんだ鼻梁 | Very frequent (99-80%) |
HP:0009465 | 指の尺側偏位 | Very frequent (99-80%) |
HP:0009924 | 鼻の無形成/低形成 | Very frequent (99-80%) |
HP:0012368 | 平坦な顔 | Very frequent (99-80%) |
HP:0100490 | 屈指 | Frequent (79-30%) |
合計: 0
HPO ID | 徴候・症状 | 症例報告数 |
---|