KEGG   DISEASE: Skraban-Deardorff 症候群
エントリ  
H02337                                                             
名称    
Skraban-Deardorff 症候群
概要    
Skraban-Deardorff syndrome is characterized by intellectual disability with seizures, abnormal gait, and distinctive facial features. It has been reported that WDR26 haploinsufficiency causes this disease.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  LD90  関連する臨床的特徴として知的発達障害を伴う病状
   H02337  Skraban-Deardorff 症候群
病因遺伝子 
WDR26 [HSA:80232] [KO:K22382]
リンク   
ICD-11: LD90.Y
OMIM: 617616
文献    
  著者
Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wieczorek D, Wilkens AB, Zonneveld-Huijssoon E, Kleefstra T, Robertson SP, Santani A, van Gassen KLI, Deardorff MA
  タイトル
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
  雑誌
Am J Hum Genet 101:139-148 (2017)
DOI:10.1016/j.ajhg.2017.06.002
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