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DO Term : deafness-intellectual disability, Martin-Probst type syndrome [DOID:0060830] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome.
  • synonyms:
  • OMIM:300519,
  • 300519,
  • mental retardation, X-linked, syndromic, Martin-Probst type,
  • ORDO:85321,
  • ICD10CM:Q87.8,
  • Martin-Probst syndrome
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