syndromic X-linked intellectual disability Lubs type

A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in

A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28.

Signs and symptoms

• Decreased body weight
• Hypotonia
• Delayed ability to sit
• Facial hypotonia
• Feeding difficulties
• Global developmental delay
• Severe infection
• Repetitive compulsive behavior
• Floppy infant
• Generalized non-motor (absence) seizure

Also known as: Lubs X-linked mental retardation syndrome; MECP2 duplication syndrome; MRXSL; X-linked intellectual disability-hypotonia-recurrent Infections syndrome; mental retardation, X-linked, syndromic, Lubs type