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GENATLAS PHENOTYPE

last update : 19-09-2017

Symbol	MRD45
Location	19q13.2
Name	mental retardation, autosomal dominant 45
Corresponding gene	CIC
Main clinical features	neurodevelopmental disorder characterized by delayed development apparent in infancy or the first years of life, variable intellectual disability, often with language delay, and behavioral disorders, including autistic features, attention deficit, and hyperactivity frequent developmental regression early in life and/or learning difficulties
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
Type	disease

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