severe X-linked intellectual disability, Gustavson type
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.
MONDO:0020119
X-linked syndromic intellectual disability
is_a
X-linked intellectual disability Gustavson type
related
X-linked mental retardation Gustavson type
related
gust
related
intellectual disability X-linked severe Gustavson type
related
mental retardation X-linked severe Gustavson type
related
mental retardation with optic atrophy, deafness, and seizures
related