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Human Disease

X-linked mental retardation Gustavson type

Term ID
DOID:0081123
Synonyms
  • mental retardation with optic atrophy, deafness and seizures
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. https://pubmed.ncbi.nlm.nih.gov/8503440/
References
Ontology
Human Disease   ( DOID:0081123 )
Relationships
is a type of
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Genes Involved
Zebrafish Models