severe X-linked intellectual disability, Gustavson type

Rare Disease

MONDO:0010661

Also Known As

Gustavson syndromeX-linked intellectual disability Gustavson typeX-linked mental retardation Gustavson typegustintellectual disability X-linked severe Gustavson typeintellectual disability with optic atrophy, deafness, and seizuresmental retardation X-linked severe Gustavson typemental retardation with optic atrophy, deafness, and seizures

Definition

Severe X-linked intellectual disability, Gustavson type is characterized by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.