leukoencephalopathy with vanishing white matter
ORPHA: 135
Overview
human disease
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 leukoencephalopathy with vanishing white matter, sourced from HPO and Orphanet clinical annotations.
Dysmyelinating leukodystrophyBrain imaging abnormalityOptic atrophyIrritabilitySeizureSpasticityCerebellar atrophyHyperreflexiaCerebral atrophyLimb ataxiaTruncal ataxiaProgressive neurologic deteriorationCerebellar vermis atrophyAtrophy/Degeneration affecting the brainstemPremature ovarian insufficiencyRenal hypoplasiaGonadal dysgenesisMicrocephalyCataractBlindnessAtypical behaviorApathyPrimary amenorrheaSecondary amenorrheaDysarthriaSpastic diplegiaHemiparesisMotor delayEncephalopathyDysmetriaFlexion contractureHepatosplenomegalyGrowth delayIntrauterine growth retardationDecreased fetal movementOligohydramniosPancreatitisVomitingDysphagiaMigraineHeadacheArthrogryposis multiplex congenitaLateral ventricle dilatationAbnormal pons morphologyNonketotic hyperglycinemiaFloppy infantMild global developmental delayFeeding difficultiesT2 hypointense thalamusWidened subarachnoid spaceDysgyriaGlobus pallidus hypointensity on susceptibility-weighted imagingCognitive impairmentOptic neuritisProgressive macrocephaly
Classification & Codes
Orphanet Code
ORPHA:135leukoencephalopathy with vanishing white matter
| Orphanet | ORPHA:135 |
| Treatments | 0 drug(s) |
| Symptoms on record | 55 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO