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DO Term : non-syndromic X-linked intellectual disability 30 [DOID:0112051] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23.
  • synonyms:
  • MRX47,
  • X-linked mental retardation 47,
  • OMIM:300558,
  • MRX30,
  • 300558,
  • X-linked mental retardation 30,
  • X-linked mental retardation 30/47
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Ontology

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