syndromic X-linked intellectual disability Chudley-Schwartz type

A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in th

A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23.

Signs and symptoms

• Decreased circulating IgM concentration
• Poor speech
• Moderate intellectual disability
• Scoliosis
• Prominent glabella
• Seizure
• Global developmental delay
• Ataxia
• Kyphosis
• Hypertelorism

Also known as: MRXSCS; X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance; mental retardation, X-linked, syndromic, Chudley-Schwartz type