X-linked intellectual disability, Stevenson type

X-linked intellectual disability, Stevenson type is characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, <i>genu valgum</i>, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.



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合計: 0 （症例報告）
  


（表示件数）
対応する徴候・症状  遺伝子  変異  キーワード（MeSH）
順位
（類似度）		 PMID
(PMCID)
        

徴候・症状リスト（Orphanetデータベースから取得）

    合計: 22

HPO ID 徴候・症状 頻度
HP:0000391 分厚い耳輪 Very frequent (99-80%)
HP:0001182 先細りの指 Very frequent (99-80%)
HP:0001252 筋緊張低下 Very frequent (99-80%)
HP:0001263 全般性発達遅滞 Very frequent (99-80%)
HP:0001284 無反射 Very frequent (99-80%)
HP:0001513 肥満 Very frequent (99-80%)
HP:0001999 異常な顔の形 Very frequent (99-80%)
HP:0002342 知的障害, 中等度 Very frequent (99-80%)
HP:0002857 外反膝 Very frequent (99-80%)
HP:0007477 異常な皮膚紋理 Very frequent (99-80%)
HP:0009928 分厚い鼻翼 Very frequent (99-80%)
HP:0010761 幅広い鼻小柱 Very frequent (99-80%)
HP:0010864 知的障害, 重度 Very frequent (99-80%)
HP:0100540 眼瞼浮腫 Very frequent (99-80%)
HP:0000098 高身長 Frequent (79-30%)
HP:0000377 耳介の異常 Frequent (79-30%)
HP:0000574 分厚い眉毛 Frequent (79-30%)
HP:0000691 小歯 Frequent (79-30%)
HP:0001176 大きな手 Frequent (79-30%)
HP:0001833 長い足 Frequent (79-30%)
HP:0010804 テント状上口唇唇紅部 Frequent (79-30%)
HP:0011968 食餌摂取障害 Frequent (79-30%)


徴候・症状リスト（症例報告から取得）

    合計: 0

HPO ID 徴候・症状 症例報告数


疾患原因遺伝子リスト（Orphanetデータベースから取得）

    合計: 0

Gene Symbol 遺伝子名 Entrez Gene ID