| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 7 (4.0%) |
9213062 |
Borjeson-Forssman-Lehmann syndrome: two severely handicapped females in a family. Petridou M, Kimiskidis V, Deligiannis K, Kazis A. Clin Neurol Neurosurg. 1997;99(2):148-50. |
| 発作 | ||
| ヒト 女 強直性間代性てんかん 症候群 知的障害 神経学的検査 頭蓋顔面奇形 | ||
| 7 (4.0%) |
8031539 |
Confirmation of a new MR/male pseudohermaphroditism syndrome, Verloes type. de Die-Smulders C, van Schrojenstein Lantman-De Valk H, Fryns JP. Genet Couns. 1994;5(1):73-5. |
| 男性仮性半陰陽 | ||
| ヒト 性分化異常 成人 潜在性二分脊椎 男 症候群 眼奇形 知的障害 聴覚消失 表現型 | ||
| 7 (4.0%) |
2098045 |
Male pseudohermaphroditism with persistent mullerian structures, mental retardation and Borjeson-Forssman-Lehmann-like features: a new syndrome? Verloes A, Gillerot Y, Delfortrie J, Zeevaert-Arnold MT, Collard R, Koulischer L, Fryns JP. Genet Couns. 1990;1(3-4):219-25. |
| 男性仮性半陰陽 | ||
| ヒト 性分化異常 成人 男 症候群 知的障害 鎖肛 | ||
| 7 (4.0%) |
564968 |
Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome. Weber FT, Frias JL, Julius RL, Felman AH. J Med Genet. 1978;15(1):63-6. |
| 性腺機能低下症 | ||
| X染色体 ヒト 劣性遺伝子 女 小頭症 性腺機能低下症 成人 男 症候群 知的障害 顔面 | ||
| 7 (4.0%) |
537034 |
The Borjeson-Forssman-Lehmann syndrome: a new case. Veall RM, Brett EM, Rivinus TM, Stephens R. J Ment Defic Res. 1979;23(4):231-42. |
| 性腺機能低下症 | ||
| GH1 | ||
| ヒト ホルモン 低身長症 口顔面指症候群 子供 子供（未就学） 小児発達 幼児 成人 男 皮膚紋理学 知的障害 経過観察 |
合計: 34
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000028 | 停留精巣 | Very frequent (99-80%) |
| HP:0000046 | 陰嚢低形成 | Very frequent (99-80%) |
| HP:0000135 | 性腺機能低下症 | Very frequent (99-80%) |
| HP:0000280 | 粗な顔貌 | Very frequent (99-80%) |
| HP:0000771 | 女性型乳房 | Very frequent (99-80%) |
| HP:0001182 | 先細りの指 | Very frequent (99-80%) |
| HP:0001249 | 知的障害 | Very frequent (99-80%) |
| HP:0001252 | 筋緊張低下 | Very frequent (99-80%) |
| HP:0001769 | 幅広い足 | Very frequent (99-80%) |
| HP:0001831 | 短い趾 | Very frequent (99-80%) |
| HP:0001836 | 屈趾 | Very frequent (99-80%) |
| HP:0001956 | 体幹肥満 | Very frequent (99-80%) |
| HP:0008070 | 疎な毛髪 | Very frequent (99-80%) |
| HP:0008734 | 精巣サイズ減少 | Very frequent (99-80%) |
| HP:0008736 | 陰茎低形成 | Very frequent (99-80%) |
| HP:0009748 | 大きな耳朶 | Very frequent (99-80%) |
| HP:0000336 | 目立つ眼窩上縁 | Frequent (79-30%) |
| HP:0000490 | 落ちくぼんだ眼 | Frequent (79-30%) |
| HP:0000508 | 眼瞼下垂 | Frequent (79-30%) |
| HP:0000574 | 分厚い眉毛 | Frequent (79-30%) |
| HP:0000581 | 眼瞼裂狭小 | Frequent (79-30%) |
| HP:0008872 | 食餌摂取障害 in infancy | Frequent (79-30%) |
| HP:0000202 | 口腔裂 | Occasional (29-5%) |
| HP:0000252 | 小頭 | Occasional (29-5%) |
| HP:0000256 | 大頭 | Occasional (29-5%) |
| HP:0000365 | 難聴 | Occasional (29-5%) |
| HP:0000518 | 白内障 | Occasional (29-5%) |
| HP:0000639 | 眼振 | Occasional (29-5%) |
| HP:0001250 | 発作 | Occasional (29-5%) |
| HP:0003202 | 筋萎縮 | Occasional (29-5%) |
| HP:0003272 | 寛骨の異常 | Occasional (29-5%) |
| HP:0004322 | 低身長 | Occasional (29-5%) |
| HP:0005692 | 関節過伸展 | Occasional (29-5%) |
| HP:0009830 | 末梢神経ニューロパチー | Occasional (29-5%) |
合計: 7
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0000135 | 性腺機能低下症 | 4 |
| HP:0001249 | 知的障害 | 2 |
| HP:0001513 | 肥満 | 2 |
| HP:0000252 | 小頭 | 1 |
| HP:0001250 | 発作 | 1 |
| HP:0005857 | 頸部二分脊椎 | 1 |
| HP:0100543 | 認知障害 | 1 |