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DO Term : X-linked intellectual disability-psychosis-macroorchidism syndrome [DOID:0060827] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28.
  • synonyms:
  • X-linked mental retardation with spasticity,
  • MRXS13,
  • mental retardation with psychosis, pyramidal signs, and macroorchidism,
  • ICD10CM:F71.1,
  • OMIM:300055,
  • ORDO:3077,
  • X-linked mental retardation 79,
  • mental retardation, X-linked, syndromic 13,
  • PPM-X,
  • Lindsay-Burn syndrome,
  • 300055
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