deafness-intellectual disability, Martin-Probst type syndrome (DOID:0060830)
Alliance: disease page
Synonyms: Martin-Probst syndrome; mental retardation, X-linked, syndromic, Martin-Probst type
Alt IDs: OMIM:300519, ICD10CM:Q87.8, ORDO:85321
Definition: 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.