Partington X-linked mental retardation syndrome
MeSH: C536300ORPHA: 94083
Overview
syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria
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 Partington X-linked mental retardation syndrome, sourced from HPO and Orphanet clinical annotations.
Triangular faceIntellectual disabilityLimb dystoniaMacroorchidismMild intellectual disabilityDysarthriaGait disturbanceLower limb spasticityModerate intellectual disabilityDelayed speech and language developmentSeizureEEG abnormalityFacial telangiectasia
Classification & Codes
MeSH Code
C536300Orphanet Code
ORPHA:94083Partington X-linked mental retardation syndrome
| MeSH | C536300 |
| Orphanet | ORPHA:94083 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO