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Definition

An autosomal dominant neurodevelopmental disorder characterized by severe mental retardation and developmental delay, absent speech, muscular hypotonia, dyskinesia, and hyperkinetic movements. Cortical blindness, cerebral atrophy, and seizures are present in some patients.

Acronym

NDHMSD

Synonyms

Mental retardation, autosomal dominant 8
MRD8

Keywords

Mental retardation

 
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