Lubs X-Linked Intellectual Disability Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - Lubs X-Linked Mental Retardation Syndrome - MECP2 Duplication Syndrome - MRXSL