deafness-intellectual disability, Martin-Probst type syndrome
MeSH: C564495ORPHA: 85321
Overview
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
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with deafness-intellectual disability, Martin-Probst type syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismBifid scrotumRenal insufficiencyRenal hypoplasiaRenal dysplasiaWide mouthAbnormality of the dentitionThick lower lip vermilionEverted lower lip vermilionMicrocephalyMalar flatteningEpicanthusMicrognathiaLow-set earsSensorineural hearing impairmentWide nasal bridgeTelecanthusCataractMyopiaBlepharophimosisDental malocclusionHypothyroidismUmbilical herniaPancytopeniaModerate intellectual disabilityShort statureWide intermamillary distanceAplasia/Hypoplasia of the nipplesAbnormal dermatoglyphicsHypoplasia of penisSevere intellectual disabilityTelangiectasia of the skin
Classification & Codes
MeSH Code
C564495Orphanet Code
ORPHA:85321deafness-intellectual disability, Martin-Probst type syndrome
| MeSH | C564495 |
| Orphanet | ORPHA:85321 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO