Version: 8.0.0
Date: Tue Jan 28 2025
X-linked mental retardation Gustavson type
DOID:0081123
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

X-linked mental retardation Gustavson type

Definition
A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death.
Synonyms
  • mental retardation with optic atrophy, deafness and seizures
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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      Associated Models

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