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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 18-11-2013
Symbol MRD13
Location 14q32.31
Name mental retardation, autosomal dominant 13
Corresponding gene DYNC1H1
Main clinical features
  • mental retardation associated with variable neuronal migration defects resulting in cortical malformations
  • variable features include early-onset seizures and mild dysmorphic features, peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    neuromuscular
    mental retardation
    Type disease
    Remark(s)