Severe X-linked intellectual disability, Gustavson type
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Severe X-linked intellectual disability, Gustavson type?
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