Distal trisomy 6p

Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.



患者の 徴候・症状 を入力


症例報告を絞り込む



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: 33

HPO ID 徴候・症状 頻度
HP:0000160 狭い口 Very frequent (99-80%)
HP:0000233 薄い唇紅部縁 Very frequent (99-80%)
HP:0000307 尖った下顎 Very frequent (99-80%)
HP:0000347 小顎 Very frequent (99-80%)
HP:0000426 目立つ鼻梁 Very frequent (99-80%)
HP:0000470 短い頸部 Very frequent (99-80%)
HP:0000499 睫毛の異常 Very frequent (99-80%)
HP:0000508 眼瞼下垂 Very frequent (99-80%)
HP:0000581 眼瞼裂狭小 Very frequent (99-80%)
HP:0000958 乾いた皮膚 Very frequent (99-80%)
HP:0000960 仙骨部陥凹 Very frequent (99-80%)
HP:0001263 全般性発達遅滞 Very frequent (99-80%)
HP:0001511 子宮内成長遅滞 Very frequent (99-80%)
HP:0002213 細い毛髪 Very frequent (99-80%)
HP:0002916 染色体分離の異常 Very frequent (99-80%)
HP:0004322 低身長 Very frequent (99-80%)
HP:0011362 異常な毛髪量 Very frequent (99-80%)
HP:0000369 耳介低位 Frequent (79-30%)
HP:0000486 斜視 Frequent (79-30%)
HP:0000639 眼振 Frequent (79-30%)
HP:0002007 前頭突出, 額突出 Frequent (79-30%)
HP:0009896 対耳珠の異常 Frequent (79-30%)
HP:0009906 耳朶無形成/低形成 Frequent (79-30%)
HP:0100818 長い胸郭 Frequent (79-30%)
HP:0000079 尿路異常 Occasional (29-5%)
HP:0000089 腎低形成 Occasional (29-5%)
HP:0000126 水腎症 Occasional (29-5%)
HP:0000518 白内障 Occasional (29-5%)
HP:0002101 肺分葉の異常 Occasional (29-5%)
HP:0002564 心および大血管奇形 Occasional (29-5%)
HP:0006610 幅広い乳頭間距離 Occasional (29-5%)
HP:0008056 眼無形成/低形成 Occasional (29-5%)
HP:0100790 ヘルニア Occasional (29-5%)


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