MEF2C

myocyte enhancer factor 2C
OMIM: 600662
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS 613443
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, autosomal dominant 20, MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS, Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443, MRSME, Chromosome 5q14.3 deletion syndrome, 613443
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations