順位 (類似度) |
PMID (PMCID) |
---|
|
合計: 15
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000235 | 泉門と頭蓋骨縫合の異常 | Very frequent (99-80%) |
HP:0000252 | 小頭 | Very frequent (99-80%) |
HP:0000316 | 両眼隔離 | Very frequent (99-80%) |
HP:0000347 | 小顎 | Very frequent (99-80%) |
HP:0000444 | 凸の鼻梁 | Very frequent (99-80%) |
HP:0000494 | 眼瞼裂斜下 | Very frequent (99-80%) |
HP:0000518 | 白内障 | Very frequent (99-80%) |
HP:0000543 | 視神経杯蒼白 | Very frequent (99-80%) |
HP:0001250 | 発作 | Very frequent (99-80%) |
HP:0001639 | 肥大型心筋症 | Very frequent (99-80%) |
HP:0002120 | 大脳皮質萎縮 | Very frequent (99-80%) |
HP:0002353 | 脳波異常 | Very frequent (99-80%) |
HP:0007370 | 脳梁無形成/低形成 | Very frequent (99-80%) |
HP:0011304 | 幅広い母指 | Very frequent (99-80%) |
HP:0100672 | 膣ヘルニア | Very frequent (99-80%) |
合計: 0
HPO ID | 徴候・症状 | 症例報告数 |
---|
合計: 0
Gene Symbol | 遺伝子名 | Entrez Gene ID |
---|