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GENATLAS PHENOTYPE

last update : 15-06-2018

Symbol	MRD55
Location	6q22.1
Name	mental retardation, autosomal dominant 55, with seizures
Corresponding gene	NUS1
Main clinical features	onset of myoclonic seizures in the first years of life with global developmental delay, moderate intellectual disability, speech delay, and ataxic gait EEG showed diffuse background slowing and high or small amplitude spikes brain imaging in all patients was normal
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
	neurology
Type	disease

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