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Definition

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSL patients manifest mental retardation associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge.

Acronym

MRXSL

Synonyms

Lubs X-linked mental retardation syndrome
MECP2 duplication syndrome
Mental retardation X-linked Lubs type
Mental retardation X-linked with recurrent respiratory infections

Keywords

Mental retardation

 
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