Severe X-linked intellectual disability, Gustavson type
Alternate names
GUST; Gustavson syndrome
Definition
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993.
NIH genetic and rare disease info
Severe X-linked intellectual disability, Gustavson type is a rare disease.
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