KEGG   DISEASE: Mental retardation-stereotypic movements-epilepsy and/or cerebral malformationsHelp
Entry
H01223                      Disease                                

Name
Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations;
Chromosome 5q14.3 deletion syndrome
Description
Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations (MRSME) is a disorder characterized by severe mental retardation, absent speech, hypotonia, poor eye contact and stereotypic movements. Most of the patients presented also with facial dysmorphic features, epilepsy and cerebral malformations. It has been suggested that haploinsufficiency of MEF2C is responsible for MRSME.
Category
Chromosomal abnormality
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Chromosomal abnormalities
   H01223  Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Chromosomal anomalies, excluding gene mutations
   LD44  Deletions of the autosomes
    H01223  Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations
BRITE hierarchy
Gene
MEF2C [HSA:4208] [KO:K04454]
Other DBs
ICD-11: LD44.50
ICD-10: Q93.5
OMIM: 613443
Reference
  Authors
Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P, Guichet A, Barth M, Charollais A, Journel H, Auvin S, Boucher C, Kerckaert JP, David V, Manouvrier-Hanu S, Saugier-Veber P, Frebourg T, Dubourg C, Andrieux J, Bonneau D
  Title
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
  Journal
J Med Genet 47:22-9 (2010)
DOI:10.1136/jmg.2009.069732

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