| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (47.6%) |
17940555 |
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Barber JC, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch SA, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E. Eur J Hum Genet. 2008;16(1):18-27. |
| 合指趾症 目立つ額 | ||
| GATA4 | ||
| オリゴヌクレオチドアレイ配列解析 ヒト ヒト8番染色体 分子生物学 女 妊娠 幼児 成人 新生児 染色体異常 男 細胞遺伝学 蛍光インサイツハイブリダイゼーション法 表現型 遺伝子量 | ||
| 2 (42.3%) |
16691576 |
Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization. Shieh JT, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, Salpietro CD, Bernardini L, Dallapiccola B, Hoyme HE. Am J Med Genet A. 2006;140(12):1267-73. |
| 眼瞼裂狭小 屈指 | ||
| オリゴヌクレオチドアレイ配列解析 ヒト ヒト8番染色体 女 子供（未就学） 幼児 染色体マッピング 染色体欠失 男 症候群 発達障害 蛍光インサイツハイブリダイゼーション法 頭蓋顔面奇形 | ||
| 3 (39.0%) |
23239647 |
A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome. Debost-Legrand A, Eymard-Pierre E, Pebrel-Richard C, Gouas L, Goumy C, Giollant M, Ayed W, Tchirkov A, Francannet C, Vago P. Am J Med Genet A. 2013;161A(1):162-5. |
| 小頭 | ||
| FAM92A | ||
| ヒト ヒト8番染色体 小頭症 幼児 染色体欠失 男 発達障害 瞼裂縮小 自閉症性障害 蛍光インサイツハイブリダイゼーション法 表現型 頭蓋顔面奇形 | ||
| 4 (30.8%) |
22821852 |
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. Allanson J, Smith A, Hare H, Albrecht B, Bijlsma E, Dallapiccola B, Donti E, Fitzpatrick D, Isidor B, Lachlan K, Le Caignec C, Prontera P, Raas-Rothschild A, Rogaia D, van Bon B, Aradhya S, Crocker SF, Jarinova O, McGowan-Jordan J, Boycott K, Bulman D, Fagerberg CR. Am J Med Genet A. 2012;158A(9):2091-9. |
| 内眼角外方偏位 | ||
| ヒト ヒト8番染色体 女 子供（未就学） 成人 染色体欠失 男 瞼裂縮小 表現型 頭蓋顔面奇形 |
合計: 32
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000028 | 停留精巣 | Very frequent (99-80%) |
| HP:0000298 | 仮面様顔貌 | Very frequent (99-80%) |
| HP:0000343 | 長い人中 | Very frequent (99-80%) |
| HP:0000369 | 耳介低位 | Very frequent (99-80%) |
| HP:0000377 | 耳介の異常 | Very frequent (99-80%) |
| HP:0000431 | 幅広い鼻梁 | Very frequent (99-80%) |
| HP:0000457 | 落ちくぼんだ鼻梁 | Very frequent (99-80%) |
| HP:0000506 | 内眼角外方偏位 | Very frequent (99-80%) |
| HP:0000535 | 疎な眉毛 | Very frequent (99-80%) |
| HP:0000581 | 眼瞼裂狭小 | Very frequent (99-80%) |
| HP:0002553 | 高位の弓形眉毛 | Very frequent (99-80%) |
| HP:0008577 | 巻き込み不足の耳輪 | Very frequent (99-80%) |
| HP:0009738 | 対耳輪の異常 | Very frequent (99-80%) |
| HP:0010720 | 異常な毛髪パターン | Very frequent (99-80%) |
| HP:0010781 | 皮膚小孔 | Very frequent (99-80%) |
| HP:0100024 | 著しい幸せな性質 | Very frequent (99-80%) |
| HP:0100679 | 皮膚弾性欠如 | Very frequent (99-80%) |
| HP:0000135 | 性腺機能低下症 | Frequent (79-30%) |
| HP:0000164 | 歯の異常 | Frequent (79-30%) |
| HP:0000252 | 小頭 | Frequent (79-30%) |
| HP:0000327 | 上顎低形成 | Frequent (79-30%) |
| HP:0000470 | 短い頸部 | Frequent (79-30%) |
| HP:0001263 | 全般性発達遅滞 | Frequent (79-30%) |
| HP:0001376 | 関節運動制限 | Frequent (79-30%) |
| HP:0001852 | サンダルギャップ | Frequent (79-30%) |
| HP:0006610 | 幅広い乳頭間距離 | Frequent (79-30%) |
| HP:0100490 | 屈指 | Frequent (79-30%) |
| HP:0000176 | 粘膜下硬口蓋裂 | Occasional (29-5%) |
| HP:0000653 | 疎な睫毛 | Occasional (29-5%) |
| HP:0001363 | Craniosynostosis | Occasional (29-5%) |
| HP:0005288 | 鼻孔の異常 | Occasional (29-5%) |
| HP:0006101 | 合指症 | Occasional (29-5%) |
合計: 3
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0000506 | 内眼角外方偏位 | 1 |
| HP:0000581 | 眼瞼裂狭小 | 1 |
| HP:0045075 | Sparse eyebrow | 1 |
合計: 0
| Gene Symbol | 遺伝子名 | Entrez Gene ID |
|---|