Lubs X-linked mental retardation syndrome

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Lubs X-linked mental retardation syndrome2016-11-26T21:44:20+00:00

Lubs X-linked mental retardation syndrome 

GENETICS, NEUROLOGY 

An X-linked neurodevelopmental disorder (OMIM:300260) that affects only males, which is characterised by severe to profound mental retardation, infantile hypotonia, mild dysmorphia, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections.

Molecular pathology Defects in MECP2, which encodes a protein that downregulates transcription and is required for embryonic development, cause Lubs X-linked mental retardation syndrome. 

Synonym Mental retardation—X-linked—syndromic—Lubs type

References http://www.uniprot.org/uniprot/P51608

http://www.omim.org/entry/300260

 

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