Orphanet: Severe X linked intellectual disability, Gustavson type
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Severe X-linked intellectual disability, Gustavson type

Disease 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.

ORPHA:3078

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: F72.9
  • OMIM: 309555
  • UMLS: C0795965
  • MeSH: -
  • GARD: 5611
  • MedDRA: -
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