syndromic X-linked intellectual disability Shashi type
MeSH: C537135ORPHA: 85286
Overview
syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has material basis in mutation in the RBMX gene on chromosome Xq26
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 syndromic X-linked intellectual disability Shashi type, sourced from HPO and Orphanet clinical annotations.
MacroorchidismEverted lower lip vermilionCoarse facial featuresProminent supraorbital ridgesMacrotiaBulbous noseBlepharophimosisDelayed speech and language developmentSeizureObesityModerate intellectual disabilityPalpebral edema
Classification & Codes
MeSH Code
C537135Orphanet Code
ORPHA:85286syndromic X-linked intellectual disability Shashi type
| MeSH | C537135 |
| Orphanet | ORPHA:85286 |
| Treatments | 0 drug(s) |
| Symptoms on record | 12 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO