| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (60.5%) |
23913798 |
Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations. Kido Y, Gordon CT, Sakazume S, Ben Bdira E, Dattani M, Wilson LC, Lyonnet S, Murakami N, Cunningham ML, Amiel J, Nagai T. Am J Med Genet A. 2013;161A(9):2339-46. |
| 小顎 下顎顆低形成 | ||
| DNA配列解析 RNAスプライス部位 ヒト ホスホリパーゼCβ 劣性遺伝子 変異 女 成人 新生児 男 耳疾患 表現型 | ||
| 2 (4.0%) |
24268655 |
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. Gordon CT, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschke P, Lindholm P, Pellerin P, Guion-Almeida ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J. Am J Hum Genet. 2013;93(6):1118-25. |
| 転倒 | ||
| EDN1 EDNRA GNAI3 PLCB4 | ||
| rs587777231 rs587777232 rs587777233 rs587777234 | ||
| DNA変異解析 Molecular Sequence Data アミノ酸置換 アミノ酸配列 エンドセリン1 シグナル伝達 ヒト 優性遺伝子 劣性遺伝子 変異 女 男 耳疾患 表現型 遺伝子型 配列アライメント |
合計: 34
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0007628 | 下顎顆低形成 | Very frequent (99-80%) |
| HP:0008572 | 外耳奇形 | Very frequent (99-80%) |
| HP:0009902 | 耳輪裂 | Very frequent (99-80%) |
| HP:0000160 | 狭い口 | Frequent (79-30%) |
| HP:0000162 | 舌根沈下 | Frequent (79-30%) |
| HP:0000175 | 口蓋裂 | Frequent (79-30%) |
| HP:0000183 | 舌運動障害 | Frequent (79-30%) |
| HP:0000193 | 二分した口蓋垂 | Frequent (79-30%) |
| HP:0000293 | 大きな頬 | Frequent (79-30%) |
| HP:0000324 | 顔面非対称 | Frequent (79-30%) |
| HP:0000347 | 小顎 | Frequent (79-30%) |
| HP:0000368 | 低位の後方回転した耳介 | Frequent (79-30%) |
| HP:0000377 | 耳介の異常 | Frequent (79-30%) |
| HP:0000384 | 耳介前皮膚肉柱 | Frequent (79-30%) |
| HP:0000678 | 歯混雑 | Frequent (79-30%) |
| HP:0000689 | 不正咬合 | Frequent (79-30%) |
| HP:0002098 | 呼吸窮迫 | Frequent (79-30%) |
| HP:0002870 | 閉塞性睡眠時無呼吸 | Frequent (79-30%) |
| HP:0008772 | 外耳無形成/低形成 | Frequent (79-30%) |
| HP:0009895 | 外耳輪脚の異常 | Frequent (79-30%) |
| HP:0010754 | 側頭下顎関節の異常 | Frequent (79-30%) |
| HP:0025267 | Snoring | Frequent (79-30%) |
| HP:0030022 | Question mark ear | Frequent (79-30%) |
| HP:0100277 | 耳介前皮膚小孔 | Frequent (79-30%) |
| HP:0000171 | 小舌 | Occasional (29-5%) |
| HP:0000256 | 大頭 | Occasional (29-5%) |
| HP:0000365 | 難聴 | Occasional (29-5%) |
| HP:0000508 | 眼瞼下垂 | Occasional (29-5%) |
| HP:0001263 | 全般性発達遅滞 | Occasional (29-5%) |
| HP:0001290 | 全身性筋緊張低下 | Occasional (29-5%) |
| HP:0007627 | 下顎顆無形成 | Occasional (29-5%) |
| HP:0011802 | 舌過誤腫 | Occasional (29-5%) |
| HP:0011968 | 食餌摂取障害 | Occasional (29-5%) |
| HP:0030713 | Vein of Galen aneurysmal malformation | Very rare (4-1%) |
合計: 1
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0030022 | Question mark ear | 1 |