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Definition

An autosomal dominant disorder characterized by global developmental delay apparent in the first six months of life, followed by onset of seizures between 21 months and 4 years. Disease features include moderate-to-severe intellectual disability, poor speech, delayed walking, and ataxia.

Acronym

MRD60

Synonyms

Mental retardation, autosomal dominant 60, with seizures

Keywords

Epilepsy
Mental retardation

 
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