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DO Term : syndromic X-linked intellectual disability 94 [DOID:0060823] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:300699,
  • mental retardation, X-linked 94,
  • MRX94,
  • syndromic X-linked mental retardation 29,
  • ORDO:364028,
  • MRXS29,
  • ICD10CM:F72,
  • syndromic X-linked mental retardation Wu type,
  • 300699,
  • syndromic X-linked intellectual disability due to GRIA3 anomalies
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