syndromic disease deafness-intellectual disability, Martin-Probst type syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/martin_probst_syndrome MONDO:0010353 DOID:0060830 GARD:0016750 SCTID:721087008 UMLS:C1845285 OMIM:300519 MESH:C564495 Martin-Probst syndrome MEDGEN:375620 Martin-Probst deafness-mental retardation syndrome X-linked deafness-intellectual disability syndrome syndrome MRXSMP Orphanet:85321 A syndrome characterized by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localized to the q1-21 region of the X chromosome. martin-probst syndrome, X-linked recessive intellectual disability, X-linked, syndromic, Martin-Probst type intellectual disability, X-linked, syndromic, MARTIN-Probst type mental retardation, X-linked, syndromic, Martin-Probst type mental retardation, X-linked, syndromic, MARTIN-Probst type multiple congenital anomalies/dysmorphic syndrome-intellectual disability X-linked syndromic intellectual disability