KEGG   DISEASE: H00907Help
Entry
H00907                      Disease                                

Name
Kleefstra syndrome;
9q Subtelomeric deletion syndrome
Description
Kleefstra syndrome, also known as the 9q subtelomeric deletion syndrome is characterized by intellectual disability, childhood hypotonia, and distinctive facial features. About 75% of Kleefstra syndrome is caused by microdeletion of 9q34.3 and 25% by intragenic EHMT1 mutation.
Category
Developmental disorder; Autism
BRITE hierarchy
Pathway
Lysine degradation
Gene
EHMT1 [HSA:79813] [KO:K11420]
Other DBs
MeSH: 
OMIM: 
Reference
  Authors
Verhoeven WM, Egger JI, Vermeulen K, van de Warrenburg BP, Kleefstra T
  Title
Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course.
  Journal
Am J Med Genet A 155A:2409-15 (2011)
Reference
  Authors
Kleefstra T, Nillesen WM, Yntema HG
  Title
Kleefstra Syndrome
  Journal
(1993)

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