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An Entity of Type : owl:Axiom, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

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  • A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25.
database_cross_reference
  • url:https://www.ncbi.nlm.nih.gov/pubmed/17989220
  • url:https://www.ncbi.nlm.nih.gov/pubmed/19449417
  • url:https://www.ncbi.nlm.nih.gov/pubmed/24721225
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