X-linked mental retardation Gustavson type

A syndromic X-linked intellectual disability that is characterized by intrauterine growth retardation, microcephaly, hypotonia, and severe global developmental delay, usually resulting in death in infancy or early childhood that has_material_basis_in hemizygou

A syndromic X-linked intellectual disability that is characterized by intrauterine growth retardation, microcephaly, hypotonia, and severe global developmental delay, usually resulting in death in infancy or early childhood that has_material_basis_in hemizygous mutation in the RBMX gene on chromosome Xq26.

Signs and symptoms

• Hearing impairment
• Microcephaly
• Seizure
• Blindness
• Severely reduced visual acuity
• Optic atrophy
• Restricted large joint movement
• Spasticity
• Intellectual disability

Also known as: Gustavson type of X-linked syndromic intellectual developmental disorder; mental retardation with optic atrophy, deafness and seizures