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Definition

A disorder characterized by severe mental retardation, absent speech, hypotonia, poor eye contact and stereotypic movements. Dysmorphic features include high broad forehead with variable small chin, short nose with anteverted nares, large open mouth, upslanted palpebral fissures and prominent eyebrows. Some patients have seizures.

Acronym

MRD20

Synonyms

Chromosome 5q14.3 deletion syndrome
Mental retardation, stereotypic movements, epilepsy and/or cerebral malformations

Keywords

Epilepsy
Mental retardation

 
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