KEGG   DISEASE: Weiss-Kruszka 症候群
エントリ  
H02465                                                             
名称    
Weiss-Kruszka 症候群
概要    
Weiss-Kruszka syndrome is an autosomal dominant disorder characterized by craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. It has been reported that haploinsufficiency of ZNF462 is associated with this syndrome.
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
  多発性の発達異常または症候群
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H02465  Weiss-Kruszka 症候群
病因遺伝子 
ZNF462 [HSA:58499] [KO:K24853]
リンク   
ICD-11: LD2F.Y
OMIM: 618619
文献    
  著者
Kruszka P, Hu T, Hong S, Signer R, Cogne B, Isidor B, Mazzola SE, Giltay JC, van Gassen KLI, England EM, Pais L, Ockeloen CW, Sanchez-Lara PA, Kinning E, Adams DJ, Treat K, Torres-Martinez W, Bedeschi MF, Iascone M, Blaney S, Bell O, Tan TY, Delrue MA, Jurgens J, Barry BJ, Engle EC, Savage SK, Fleischer N, Martinez-Agosto JA, Boycott K, Zackai EH, Muenke M
  タイトル
Phenotype delineation of ZNF462 related syndrome.
  雑誌
Am J Med Genet A 179:2075-2082 (2019)
DOI:10.1002/ajmg.a.61306
文献    
  著者
Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Ghali N, Study DDD, Anderlid BM, Lundin J, Hamosh A, Jones MC, Ghedia S, Muenke M, Kruszka P
  タイトル
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.
  雑誌
Eur J Hum Genet 25:946-951 (2017)
DOI:10.1038/ejhg.2017.86
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