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GENATLAS PHENOTYPE
last update : 07-05-2019
Symbol MRSCF
Location 13q12.13
Name mental retardation syndromic with cerebral malformation and facial dysmorphism
Corresponding gene CDK8
Main clinical features
  • hypotonia, motor delay and sometimes persistent problems in walking, mild to moderate developmental delay
  • also autism spectrum disorder (ASD) and/or attention deficit hyperactivity disorder (ADHD)
  • at MRI of the brain frequent agenesis or thinning of the corpus callosum; also hearing loss in any cases and heart anomalies
  • Genetic determination not applicable
    Function/system disorder mental retardation
    neurology
    ear
    Type disease
    Remark(s)