Pelizaeus-Merzbacher disease in female carriers
ORPHA: 280229
Overview
gene (Xq22)
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 Pelizaeus-Merzbacher disease in female carriers, sourced from HPO and Orphanet clinical annotations.
Neurogenic bladderHypertelorismDeeply set eyeNystagmusHorizontal nystagmusHypotoniaMental deteriorationAbnormal corpus callosum morphologyGait disturbanceHyperreflexiaGrowth delayLower limb spasticityAbnormal speech patternGeneralized-onset seizureSpastic paraparesisDevelopmental regressionInability to walkCNS hypomyelinationBabinski signNevus flammeus of the foreheadAbnormality of the lower urinary tractMild global developmental delayModerate global developmental delayMidface retrusionAnomic aphasiaHyperintensity of cerebral white matter on MRIDecreased vigilanceHand apraxia
Classification & Codes
Orphanet Code
ORPHA:280229Pelizaeus-Merzbacher disease in female carriers
| Orphanet | ORPHA:280229 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO