| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (65.0%) |
25394726 (5589071) |
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. Gripp KW, Robbins KM, Sobreira NL, Witmer PD, Bird LM, Avela K, Makitie O, Alves D, Hogue JS, Zackai EH, Doheny KF, Stabley DL, Sol-Church K. Am J Med Genet A. 2015;167A(2):271-81. |
| 狭い口蓋 小顎 内眼角外方偏位 | ||
| NOTCH2 NOTCH3 | ||
| c|DEL|6461_6486| c|INS|6692_93|C c|SUB|A|6247|T;RS#:796065045 c|SUB|C|6663|G c|SUB|C|6732|A p|Y|2221|* p|Y|2244|* rs1555729077 rs773656789 rs780169747 rs796065045 rs869312909 rs869312910 rs869312911 | ||
| DNA変異解析 Notch3受容体 Notchレセプター エクソン エクソーム ハイスループット核酸シーケンシング ヒト 変異 子供 子供（未就学） 男 磁気共鳴画像法 若年成人 表現型 顔貌 | ||
| 2 (60.5%) |
23962060 |
Lehman syndrome: a new syndrome for pierre robin sequence. Correia-Sa I, Horta R, Neto T, Amarante J, Marques M. Cleft Palate Craniofac J. 2015;52(3):369-72. |
| 舌根沈下 小顎 | ||
| ヒト 仮骨延長法 小顎症 幼児 男 磁気共鳴画像法 | ||
| 3 (20.4%) |
26754023 |
Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation. Ejaz R, Qin W, Huang L, Blaser S, Tetreault M, Hartley T, Boycott KM, Carter MT. Am J Med Genet A. 2016;170A(4):1070-5. |
| 関節過動 | ||
| rs1555725043 | ||
| DNA変異解析 Notch3受容体 エクソン ヒト 変異 子供（未就学） 男 磁気共鳴画像法 神経画像処理 脳 表現型 顔貌 | ||
| 4 (17.5%) |
24311540 |
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain. Castori M, Morlino S, Ritelli M, Brancati F, De Bernardo C, Colombi M, Grammatico P. Am J Med Genet A. 2014;164A(2):528-34. |
| 筋虚弱 | ||
| ヒト 中年 女 磁気共鳴画像法 筋骨格痛 脳 表現型 診断遅延 鑑別診断 関節不安定 | ||
| 5 (4.0%) |
27911244 |
Neurosurgical management in lateral meningocele syndrome: case report. Brown EC, Gupta K, Sayama C. J Neurosurg Pediatr. 2017;19(2):232-238. |
| 髄膜瘤 | ||
| ヒト 口蓋裂 女 幼児 発達障害 脳 脳神経外科手術 | ||
| 5 (4.0%) |
23696373 |
Lateral meningocele syndrome: additional report and further evidence supporting a connective tissue basis. Alves D, Sampaio M, Figueiredo R, Leao M. Am J Med Genet A. 2013;161A(7):1768-72. |
| 二弁性大動脈弁 | ||
| rs869312911 | ||
| ヒト 女 妊娠 子供（未就学） 新生児 男 磁気共鳴画像法 結合組織 顔面 | ||
| 5 (4.0%) |
23074680 (3447232) |
MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome. Sharda S, Panigrahi I, Marwaha RK. Case Rep Genet. 2011;2011:839650. |
| 停留精巣 | ||
| 5 (4.0%) |
8574426 |
Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome. Philip N, Andrac L, Moncla A, Sigaudy S, Zanon N, Lena G, Choux M. Clin Dysmorphol. 1995;4(4):347-51. |
| 髄膜瘤 | ||
| X線コンピュータ断層撮影 ヒト 成人 男 症候群 硬膜 磁気共鳴画像法 脊柱管 脊髄疾患 顔面 骨 骨硬化症 |
合計: 41
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000268 | 長頭 | Very frequent (99-80%) |
| HP:0000272 | 平坦な頬 | Very frequent (99-80%) |
| HP:0000275 | 狭い顔 | Very frequent (99-80%) |
| HP:0000347 | 小顎 | Very frequent (99-80%) |
| HP:0000358 | 耳介後方回転 | Very frequent (99-80%) |
| HP:0000369 | 耳介低位 | Very frequent (99-80%) |
| HP:0000405 | 伝音難聴 | Very frequent (99-80%) |
| HP:0000413 | 外耳道閉鎖 | Very frequent (99-80%) |
| HP:0000494 | 眼瞼裂斜下 | Very frequent (99-80%) |
| HP:0000508 | 眼瞼下垂 | Very frequent (99-80%) |
| HP:0002435 | 髄膜瘤 | Very frequent (99-80%) |
| HP:0002645 | ウォルム氏骨 | Very frequent (99-80%) |
| HP:0002705 | 高狭口蓋 | Very frequent (99-80%) |
| HP:0100775 | 硬膜拡張 | Very frequent (99-80%) |
| HP:0000023 | 鼠径ヘルニア | Frequent (79-30%) |
| HP:0000319 | 平坦な人中 | Frequent (79-30%) |
| HP:0000470 | 短い頸部 | Frequent (79-30%) |
| HP:0000678 | 歯混雑 | Frequent (79-30%) |
| HP:0000767 | 漏斗胸 | Frequent (79-30%) |
| HP:0001537 | 臍ヘルニア | Frequent (79-30%) |
| HP:0002162 | 後部毛髪線低位 | Frequent (79-30%) |
| HP:0002650 | 側弯 | Frequent (79-30%) |
| HP:0003312 | 椎体骨形態異常 | Frequent (79-30%) |
| HP:0004452 | 中耳耳小骨の異常 | Frequent (79-30%) |
| HP:0004493 | 頭蓋顔面過骨症 | Frequent (79-30%) |
| HP:0005487 | 目立つ前頭縫合隆起 | Frequent (79-30%) |
| HP:0005692 | 関節過伸展 | Frequent (79-30%) |
| HP:0000028 | 停留精巣 | Occasional (29-5%) |
| HP:0000218 | 高口蓋 | Occasional (29-5%) |
| HP:0000286 | 内眼角贅皮 | Occasional (29-5%) |
| HP:0000316 | 両眼隔離 | Occasional (29-5%) |
| HP:0000407 | 感音難聴 | Occasional (29-5%) |
| HP:0000520 | 眼球突出 | Occasional (29-5%) |
| HP:0000612 | コロボーマ | Occasional (29-5%) |
| HP:0001252 | 筋緊張低下 | Occasional (29-5%) |
| HP:0001263 | 全般性発達遅滞 | Occasional (29-5%) |
| HP:0001629 | 心室中隔欠損 | Occasional (29-5%) |
| HP:0002308 | Arnold-Chiari 奇形 | Occasional (29-5%) |
| HP:0002808 | 後弯 | Occasional (29-5%) |
| HP:0003307 | 前弯 | Occasional (29-5%) |
| HP:0003396 | 脊髄空洞症 | Occasional (29-5%) |
合計: 7
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0002435 | 髄膜瘤 | 4 |
| HP:0000347 | 小顎 | 1 |
| HP:0001324 | 筋虚弱 | 1 |
| HP:0001382 | 関節過動 | 1 |
| HP:0001513 | 肥満 | 1 |
| HP:0001647 | 二弁性大動脈弁 | 1 |
| HP:0032478 | Lateral spinal meningocele | 1 |