| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (63.5%) |
19842190 |
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. du Souich C, Chou A, Yin J, Oh T, Nelson TN, Hurlburt J, Arbour L, Friedlander R, McGillivray BC, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF. Am J Med Genet A. 2009;149A(11):2469-78. |
| 小顎 眼瞼裂斜上 | ||
| rs121909833 | ||
| X連鎖精神遅滞 ヒト 中年 体質 女 妊娠 子供 子供（未就学） 小頭症 幼児 成人 手 新生児 男 磁気共鳴画像法 致死的転帰 顔貌 | ||
| 2 (52.8%) |
23696453 |
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Zhang Z, Norris J, Kalscheuer V, Wood T, Wang L, Schwartz C, Alexov E, Van Esch H. Hum Mol Genet. 2013;22(18):3789-97. |
| 顔面非対称 後弯 長い指 | ||
| SMS | ||
| c|SUB|A|1084|G;RS#:397515553 p|SUB|Y|328|C;RS#:397515553 rs1556001138 rs397515553 | ||
| PC12細胞 X連鎖精神遅滞 X連鎖遺伝子 スペルミン合成酵素 ヒト ミスセンス変異 ラット 動物 培養細胞 成人 男 神経突起 表現型 | ||
| 3 (23.3%) |
23897707 |
Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype. Peron A, Spaccini L, Norris J, Bova SM, Selicorni A, Weber G, Wood T, Schwartz CE, Mastrangelo M. Am J Med Genet A. 2013;161A(9):2316-20. |
| 骨粗鬆症 後側弯 | ||
| c|SUB|G|200|A;RS#:397515550 p|SUB|G|67|X;RS#:397515550 rs397515550 | ||
| X連鎖精神遅滞 スペルミン合成酵素 ナンセンスコドン ヒト 幼児 男 表現型 | ||
| 4 (21.2%) |
30237987 (6140707) |
Snyder-Robinson syndrome. Starks R, Kirby P, Ciliberto M, Hefti M. Autops Case Rep. 2018;8(3):e2018031. |
| 骨粗鬆症 | ||
| SMS SRPX | ||
| c|SUB|G|831|T p|SUB|L|277|F | ||
合計: 66
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0002751 | 後側弯 | Very frequent (99-80%) |
| HP:0000175 | 口蓋裂 | Frequent (79-30%) |
| HP:0000179 | 分厚い下口唇唇紅部 | Frequent (79-30%) |
| HP:0000275 | 狭い顔 | Frequent (79-30%) |
| HP:0000276 | 長い顔 | Frequent (79-30%) |
| HP:0000324 | 顔面非対称 | Frequent (79-30%) |
| HP:0000939 | 骨粗鬆症 | Frequent (79-30%) |
| HP:0001166 | くも指 | Frequent (79-30%) |
| HP:0001519 | 不均衡型高身長 | Frequent (79-30%) |
| HP:0001611 | 鼻声発語 | Frequent (79-30%) |
| HP:0002317 | 不安定歩行 | Frequent (79-30%) |
| HP:0002808 | 後弯 | Frequent (79-30%) |
| HP:0003199 | 筋量減少 | Frequent (79-30%) |
| HP:0008947 | 乳児筋性筋緊張低下 | Frequent (79-30%) |
| HP:0010511 | 長い趾 | Frequent (79-30%) |
| HP:0011308 | 細い趾 | Frequent (79-30%) |
| HP:0000028 | 停留精巣 | Occasional (29-5%) |
| HP:0000029 | 精巣萎縮 | Occasional (29-5%) |
| HP:0000047 | 尿道下裂 | Occasional (29-5%) |
| HP:0000160 | 狭い口 | Occasional (29-5%) |
| HP:0000218 | 高口蓋 | Occasional (29-5%) |
| HP:0000316 | 両眼隔離 | Occasional (29-5%) |
| HP:0000319 | 平坦な人中 | Occasional (29-5%) |
| HP:0000369 | 耳介低位 | Occasional (29-5%) |
| HP:0000414 | 球状の鼻 | Occasional (29-5%) |
| HP:0000426 | 目立つ鼻梁 | Occasional (29-5%) |
| HP:0000463 | 上向きの鼻孔 | Occasional (29-5%) |
| HP:0000465 | 翼状頚 | Occasional (29-5%) |
| HP:0000582 | 眼瞼裂斜上 | Occasional (29-5%) |
| HP:0000664 | 連続眉毛 | Occasional (29-5%) |
| HP:0000678 | 歯混雑 | Occasional (29-5%) |
| HP:0000750 | 発語および言語発達遅延 | Occasional (29-5%) |
| HP:0001256 | 知的障害, 軽度 | Occasional (29-5%) |
| HP:0001336 | ミオクローヌス | Occasional (29-5%) |
| HP:0001344 | 発語欠損 | Occasional (29-5%) |
| HP:0001999 | 異常な顔の形 | Occasional (29-5%) |
| HP:0002123 | 全身性ミオクローヌス発作 | Occasional (29-5%) |
| HP:0002353 | 脳波異常 | Occasional (29-5%) |
| HP:0002540 | 歩行不能 | Occasional (29-5%) |
| HP:0002757 | 反復性骨折 | Occasional (29-5%) |
| HP:0003698 | 起立困難 | Occasional (29-5%) |
| HP:0004305 | 不随意運動 | Occasional (29-5%) |
| HP:0007509 | 斑状低および高色素 | Occasional (29-5%) |
| HP:0007687 | 片側性眼瞼下垂 | Occasional (29-5%) |
| HP:0010722 | 耳非対称 | Occasional (29-5%) |
| HP:0011153 | 焦点性運動発作 | Occasional (29-5%) |
| HP:0045075 | Sparse eyebrow | Occasional (29-5%) |
| HP:0000086 | 異所性腎 | Very rare (4-1%) |
| HP:0000232 | 下口唇唇紅部外反 | Very rare (4-1%) |
| HP:0000248 | 短頭 | Very rare (4-1%) |
| HP:0000303 | 下顎突出 | Very rare (4-1%) |
| HP:0000322 | 短い人中 | Very rare (4-1%) |
| HP:0000378 | コップ状耳 | Very rare (4-1%) |
| HP:0000385 | 小さい耳朶 | Very rare (4-1%) |
| HP:0000391 | 分厚い耳輪 | Very rare (4-1%) |
| HP:0000520 | 眼球突出 | Very rare (4-1%) |
| HP:0000767 | 漏斗胸 | Very rare (4-1%) |
| HP:0000768 | はと胸 | Very rare (4-1%) |
| HP:0001355 | 巨大脳症 | Very rare (4-1%) |
| HP:0002181 | 大脳浮腫 | Very rare (4-1%) |
| HP:0002187 | 知的障害, 最重度 | Very rare (4-1%) |
| HP:0004322 | 低身長 | Very rare (4-1%) |
| HP:0006610 | 幅広い乳頭間距離 | Very rare (4-1%) |
| HP:0010789 | Leydig 細胞異常 | Very rare (4-1%) |
| HP:0011003 | 重度近視 | Very rare (4-1%) |
| HP:0012385 | 屈指 | Very rare (4-1%) |
合計: 6
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0001250 | 発作 | 2 |
| HP:0000324 | 顔面非対称 | 1 |
| HP:0000939 | 骨粗鬆症 | 1 |
| HP:0001249 | 知的障害 | 1 |
| HP:0001276 | 筋緊張亢進 | 1 |
| HP:0002317 | 不安定歩行 | 1 |