Abidi x-linked mental retardation syndrome

An X-linked inherited syndrome caused by duplication or triplication of the gene encoding methyl-CpG-binding protein-2 (MECP2). It is characterized by mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections.

Disease Alternative Name

mecp2 duplication syndrome
lubs x-linked mental retardation syndrome

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