2p15p16.1 microdeletion syndrome

2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.



患者の 徴候・症状 を入力


症例報告を絞り込む



合計: 1 （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)
1
(39.0%)		 22579565
 Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst.
Hucthagowder V, Liu TC, Paciorkowski AR, Thio LL, Keller MS, Anderson CD, Herman T, Dehner LP, Grange DK, Kulkarni S.
Eur J Med Genet. 2012;55(8-9):485-9.
先天性小頭
てんかん発作 ヒト ヒト2番染色体 女 子供（未就学） 染色体欠失 症候群 発達障害 総胆管嚢胞 腎臓
        

徴候・症状リスト（Orphanetデータベースから取得）

    合計: 77

HPO ID 徴候・症状 頻度
HP:0000160 狭い口 Very frequent (99-80%)
HP:0000218 高口蓋 Very frequent (99-80%)
HP:0000232 下口唇唇紅部外反 Very frequent (99-80%)
HP:0000252 小頭 Very frequent (99-80%)
HP:0000286 内眼角贅皮 Very frequent (99-80%)
HP:0000319 平坦な人中 Very frequent (99-80%)
HP:0000343 長い人中 Very frequent (99-80%)
HP:0000426 目立つ鼻梁 Very frequent (99-80%)
HP:0000431 幅広い鼻梁 Very frequent (99-80%)
HP:0000494 眼瞼裂斜下 Very frequent (99-80%)
HP:0000506 内眼角外方偏位 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:0000609 視神経低形成 Very frequent (99-80%)
HP:0000648 視神経萎縮 Very frequent (99-80%)
HP:0000750 発語および言語発達遅延 Very frequent (99-80%)
HP:0001263 全般性発達遅滞 Very frequent (99-80%)
HP:0002342 知的障害, 中等度 Very frequent (99-80%)
HP:0000126 水腎症 Frequent (79-30%)
HP:0000248 短頭 Frequent (79-30%)
HP:0000278 下顎後退 Frequent (79-30%)
HP:0000340 額傾斜 Frequent (79-30%)
HP:0000341 狭い額 Frequent (79-30%)
HP:0000369 耳介低位 Frequent (79-30%)
HP:0000411 耳介聳立 Frequent (79-30%)
HP:0000486 斜視 Frequent (79-30%)
HP:0000505 視力障害 Frequent (79-30%)
HP:0000527 長い睫毛 Frequent (79-30%)
HP:0000717 自閉症 Frequent (79-30%)
HP:0000729 自閉性行動 Frequent (79-30%)
HP:0001182 先細りの指 Frequent (79-30%)
HP:0001252 筋緊張低下 Frequent (79-30%)
HP:0001290 全身性筋緊張低下 Frequent (79-30%)
HP:0001508 成長障害 (成長不全) Frequent (79-30%)
HP:0001510 成長遅滞 Frequent (79-30%)
HP:0001511 子宮内成長遅滞 Frequent (79-30%)
HP:0001840 内転中足骨 Frequent (79-30%)
HP:0002061 下肢痙性 Frequent (79-30%)
HP:0002205 反復性呼吸器感染症 Frequent (79-30%)
HP:0005274 目立つ鼻尖 Frequent (79-30%)
HP:0006610 幅広い乳頭間距離 Frequent (79-30%)
HP:0007018 注意力欠陥多動性疾患 Frequent (79-30%)
HP:0100490 屈指 Frequent (79-30%)
HP:0000003 多嚢胞腎異形成 Occasional (29-5%)
HP:0000023 鼠径ヘルニア Occasional (29-5%)
HP:0000098 高身長 Occasional (29-5%)
HP:0000135 性腺機能低下症 Occasional (29-5%)
HP:0000348 高い額 Occasional (29-5%)
HP:0000365 難聴 Occasional (29-5%)
HP:0000535 疎な眉毛 Occasional (29-5%)
HP:0000767 漏斗胸 Occasional (29-5%)
HP:0000771 女性型乳房 Occasional (29-5%)
HP:0001260 構音障害 Occasional (29-5%)
HP:0001288 歩行障害 Occasional (29-5%)
HP:0001321 小脳低形成 Occasional (29-5%)
HP:0001561 羊水過多 Occasional (29-5%)
HP:0001601 喉頭軟化症 Occasional (29-5%)
HP:0001611 鼻声発語 Occasional (29-5%)
HP:0001653 僧帽弁逆流 Occasional (29-5%)
HP:0001659 大動脈逆流 Occasional (29-5%)
HP:0001763 扁平足 Occasional (29-5%)
HP:0001852 サンダルギャップ Occasional (29-5%)
HP:0001863 弯趾 Occasional (29-5%)
HP:0002015 嚥下障害 Occasional (29-5%)
HP:0002119 脳室拡大 Occasional (29-5%)
HP:0002213 細い毛髪 Occasional (29-5%)
HP:0002353 脳波異常 Occasional (29-5%)
HP:0002558 副甲状腺乳頭 Occasional (29-5%)
HP:0002650 側弯 Occasional (29-5%)
HP:0002808 後弯 Occasional (29-5%)
HP:0002999 膝蓋骨脱臼 Occasional (29-5%)
HP:0005487 目立つ前頭縫合隆起 Occasional (29-5%)
HP:0007598 両側性単一手掌横線 Occasional (29-5%)
HP:0008734 精巣サイズ減少 Occasional (29-5%)
HP:0010628 顔面麻痺 Occasional (29-5%)
HP:0011968 食餌摂取障害 Occasional (29-5%)
HP:0100625 胸郭拡大 Occasional (29-5%)


徴候・症状リスト（症例報告から取得）

    合計: 1

HPO ID 徴候・症状 症例報告数
HP:0001250 発作 1


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