KEGG   DISEASE: Harel-Tora neurodevelopmental 症候群
エントリ  
H02995                                                             
名称    
Harel-Tora neurodevelopmental 症候群
概要    
Harel-Tora neurodevelopmental syndrome (HATONS) is a novel syndrome characterized by global motor and language developmental delay, hypotonia and distinctive facial characteristics. It has been reported that mutations in ATXN7L3 cause this syndrome. ATXN7L3 is a component of the deubiquitination (DUB) module of the Spt-Ada-Gcn5 acetyltransferase (SAGA) complex.
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
   H02995  Harel-Tora neurodevelopmental 症候群
病因遺伝子 
ATXN7L3 [HSA:56970] [KO:K11363]
リンク   
ICD-11: LD90.Y
OMIM: 621377
文献    
PMID:38753057
  著者
Harel T, Spicher C, Scheer E, Buchan JG, Cech J, Folland C, Frey T, Holtz AM, Innes AM, Keren B, Macken WL, Marcelis C, Otten CE, Paolucci SA, Petit F, Pfundt R, Pitceathly RDS, Rauch A, Ravenscroft G, Sanchev R, Steindl K, Tammer F, Tyndall A, Devys D, Vincent SD, Elpeleg O, Tora L
  タイトル
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
  雑誌
Brain 147:2732-2744 (2024)
DOI:10.1093/brain/awae160
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