KEGG   DISEASE: Luscan-Lumish syndrome
Entry
H02444                      Disease                                
Name
Luscan-Lumish syndrome
Description
Luscan-Lumish syndrome is an overgrowth condition caused by mutations in SETD2. It is characterised by macrocephaly, intellectual disability, speech delay, and behavioral problems.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2C  Overgrowth syndromes
    H02444  Luscan-Lumish syndrome
Gene
SETD2 [HSA:29072] [KO:K11423]
Other DBs
ICD-11: LD2C
OMIM: 616831
Reference
PMID:26084711
  Authors
Lumish HS, Wynn J, Devinsky O, Chung WK
  Title
Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.
  Journal
J Autism Dev Disord 45:3764-70 (2015)
DOI:10.1007/s10803-015-2484-8
Reference
PMID:24852293
  Authors
Luscan A, Laurendeau I, Malan V, Francannet C, Odent S, Giuliano F, Lacombe D, Touraine R, Vidaud M, Pasmant E, Cormier-Daire V
  Title
Mutations in SETD2 cause a novel overgrowth condition.
  Journal
J Med Genet 51:512-7 (2014)
DOI:10.1136/jmedgenet-2014-102402
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