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GENATLAS PHENOTYPE

last update : 28-12-2017

Symbol	MRD54
Location	7p13
Name	Mental retardation, autosomal dominant 54
Corresponding gene	CAMK2B
Main clinical features	delayed psychomotor development and mild to severe intellectual disability (ID) hypotonia, delayed walking, delayed speech, and behavioral abnormalities, including autistic features, seizures and EEG abnormalities brain imaging was normal in most patients, frequent visual anomalies, including strabismus and visual impairment
Genetic determination	not applicable
Function/system disorder	mental retardation
	neurology
Type	disease

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