X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome

X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.



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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: 21

HPO ID 徴候・症状 頻度
HP:0000303 下顎突出 Very frequent (99-80%)
HP:0000664 連続眉毛 Very frequent (99-80%)
HP:0000998 多毛症 Very frequent (99-80%)
HP:0001250 発作 Very frequent (99-80%)
HP:0002342 知的障害, 中等度 Very frequent (99-80%)
HP:0002344 進行性神経学的悪化 Very frequent (99-80%)
HP:0004313 低ガンマグロブリン血症 Very frequent (99-80%)
HP:0005487 目立つ前頭縫合隆起 Very frequent (99-80%)
HP:0007598 両側性単一手掌横線 Very frequent (99-80%)
HP:0000175 口蓋裂 Frequent (79-30%)
HP:0000316 両眼隔離 Frequent (79-30%)
HP:0000322 短い人中 Frequent (79-30%)
HP:0000336 目立つ眼窩上縁 Frequent (79-30%)
HP:0000411 耳介聳立 Frequent (79-30%)
HP:0001251 運動失調 Frequent (79-30%)
HP:0001272 小脳萎縮 Frequent (79-30%)
HP:0001288 歩行障害 Frequent (79-30%)
HP:0001324 筋虚弱 Frequent (79-30%)
HP:0002650 側弯 Frequent (79-30%)
HP:0002808 後弯 Frequent (79-30%)
HP:0009830 末梢神経ニューロパチー 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