X-linked intellectual disability, Brooks type

X-linked intellectual disability, Brooks type is a rare X-linked intellectual disability syndrome characterized by failure to thrive, speech delay, intellectual disability, muscle hypotonia, spastic diplegia, optic atrophy with myopia, and distinct facial features (including triangular face, bifrontal narrowness, deeply set eyes, low-set/cupped ears, prominent nose, short philtrum, and thin upper lip with tented morphology) that can be evident from birth. Additional manifestations reported in some patients include large joint contractures and pectus excavatum (which become more evident with age) and seizures.



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: 44

HPO ID 徴候・症状 頻度
HP:0000252 小頭 Very frequent (99-80%)
HP:0000365 難聴 Very frequent (99-80%)
HP:0000581 眼瞼裂狭小 Very frequent (99-80%)
HP:0001249 知的障害 Very frequent (99-80%)
HP:0001518 在胎月齢より小さい児 Very frequent (99-80%)
HP:0004322 低身長 Very frequent (99-80%)
HP:0000028 停留精巣 Frequent (79-30%)
HP:0000219 薄い上口唇唇紅部 Frequent (79-30%)
HP:0000272 平坦な頬 Frequent (79-30%)
HP:0000322 短い人中 Frequent (79-30%)
HP:0000325 三角形の顔 Frequent (79-30%)
HP:0000341 狭い額 Frequent (79-30%)
HP:0000358 耳介後方回転 Frequent (79-30%)
HP:0000378 コップ状耳 Frequent (79-30%)
HP:0000414 球状の鼻 Frequent (79-30%)
HP:0000448 目立つ鼻 Frequent (79-30%)
HP:0000486 斜視 Frequent (79-30%)
HP:0000490 落ちくぼんだ眼 Frequent (79-30%)
HP:0000537 逆内眼角贅皮 Frequent (79-30%)
HP:0000545 近視 Frequent (79-30%)
HP:0000565 内斜視 Frequent (79-30%)
HP:0000639 眼振 Frequent (79-30%)
HP:0000648 視神経萎縮 Frequent (79-30%)
HP:0000750 発語および言語発達遅延 Frequent (79-30%)
HP:0000752 多動 Frequent (79-30%)
HP:0000767 漏斗胸 Frequent (79-30%)
HP:0001182 先細りの指 Frequent (79-30%)
HP:0001264 痙性両麻痺 Frequent (79-30%)
HP:0001274 脳梁無発生 Frequent (79-30%)
HP:0001290 全身性筋緊張低下 Frequent (79-30%)
HP:0001347 反射亢進 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:0002059 大脳萎縮 Frequent (79-30%)
HP:0002151 血清乳酸増加 Frequent (79-30%)
HP:0002162 後部毛髪線低位 Frequent (79-30%)
HP:0002370 協調運動不全 Frequent (79-30%)
HP:0002376 発達退行 Frequent (79-30%)
HP:0002828 多発性関節拘縮 Frequent (79-30%)
HP:0003199 筋量減少 Frequent (79-30%)
HP:0005280 落ちくぼんだ鼻梁 Frequent (79-30%)
HP:0007874 アーモンド型眼瞼裂 Frequent (79-30%)
HP:0010804 テント状上口唇唇紅部 Frequent (79-30%)
HP:0045025 Narrow palpebral fissure 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