| H01223 | |
| H number | H01223 |
| 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 |
| Network | - |
| Gene | MEF2C [HSA:4208] [KO:K04454] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD44.50 ICD-10: Q93.5 OMIM: 613443 |
| Reference | PMID:19592390 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 |