| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (33.7%) |
10327243 |
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome? Guion-Almeida ML, Richieri-Costa A. Clin Dysmorphol. 1999;8(1):1-4. |
| 両眼隔離 平坦な人中 | ||
| ALX3 | ||
| rs587779774 | ||
| ヒト 中枢神経系 女 幼児 症候群 知的障害 顔面 |
合計: 29
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000175 | 口蓋裂 | Very frequent (99-80%) |
| HP:0000218 | 高口蓋 | Very frequent (99-80%) |
| HP:0000248 | 短頭 | Very frequent (99-80%) |
| HP:0000316 | 両眼隔離 | Very frequent (99-80%) |
| HP:0000337 | 幅広い額 | Very frequent (99-80%) |
| HP:0000455 | 幅広い鼻尖 | 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:0000625 | 眼瞼裂 | Very frequent (99-80%) |
| HP:0001053 | 低色素性皮膚斑 | Very frequent (99-80%) |
| HP:0001088 | Brushfield 斑 | Very frequent (99-80%) |
| HP:0001156 | 短指症候群 | Very frequent (99-80%) |
| HP:0001798 | 無爪症 | Very frequent (99-80%) |
| HP:0002120 | 大脳皮質萎縮 | Very frequent (99-80%) |
| HP:0002983 | 小肢症 | Very frequent (99-80%) |
| HP:0004132 | 鼻尖の小孔 | Very frequent (99-80%) |
| HP:0004322 | 低身長 | Very frequent (99-80%) |
| HP:0005930 | 骨端の異常 | Very frequent (99-80%) |
| HP:0009882 | 短い指末節骨 | Very frequent (99-80%) |
| HP:0010864 | 知的障害, 重度 | Very frequent (99-80%) |
| HP:0011304 | 幅広い母指 | Very frequent (99-80%) |
| HP:0011800 | 顔面中部後退 | Very frequent (99-80%) |
| HP:0100335 | 非正中口唇裂 | Very frequent (99-80%) |
| HP:0100490 | 屈指 | Very frequent (99-80%) |
| HP:0100840 | 眉毛の無形成/低形成 | Very frequent (99-80%) |
| HP:0000232 | 下口唇唇紅部外反 | Frequent (79-30%) |
| HP:0000047 | 尿道下裂 | Occasional (29-5%) |
| HP:0000048 | 二分陰嚢 | Occasional (29-5%) |
| HP:0000119 | 泌尿生殖器異常 | Occasional (29-5%) |
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 |
|---|