X-linked intellectual disability-psychosis-macroorchidism syndrome
ORPHA: 3077
Overview
syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has material basis in mutation in the MECP2 gene on chromosome Xq28
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 X-linked intellectual disability-psychosis-macroorchidism syndrome, sourced from HPO and Orphanet clinical annotations.
Hyperactive deep tendon reflexesTremorCongestive heart failureAnorexiaLower limb spasticityModerate intellectual disabilityLower limb hyperreflexiaShort statureBipolar affective disorderSevere intellectual disabilityFocal EEG discharges with secondary generalizationStrokeParkinsonismObesityBroad-based gaitResting tremorShuffling gaitKyphoscoliosisStooped postureAbnormal fear-induced behaviorMacroorchidismAggressive behaviorIrritabilityHyperactivitySeizureSleep disturbance
Classification & Codes
Orphanet Code
ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndrome
| Orphanet | ORPHA:3077 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO