KEGG   DISEASE: Harel-Tora neurodevelopmental syndrome
Entry
H02995                      Disease                                
Name
Harel-Tora neurodevelopmental syndrome
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02995  Harel-Tora neurodevelopmental syndrome
Gene
ATXN7L3 [HSA:56970] [KO:K11363]
Other DBs
ICD-11: LD90.Y
OMIM: 621377
Reference
PMID:38753057
  Authors
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
  Title
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
  Journal
Brain 147:2732-2744 (2024)
DOI:10.1093/brain/awae160
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