hypomyelinating leukodystrophy 9
ORPHA: 438114
Overview
hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has material basis in compound heterozygous mutation in the RARS gene on chromosome 5q34
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 hypomyelinating leukodystrophy 9, sourced from HPO and Orphanet clinical annotations.
NystagmusReduced eye contactAtaxiaMild intellectual disabilityDysarthriaGlobal developmental delayGait disturbanceDysmetriaDystoniaHyperreflexiaLower limb spasticityHypoplasia of the corpus callosumIntention tremorPoor head controlCerebral hypomyelinationLower limb hypertoniaProgressive extrapyramidal movement disorderDevelopmental stagnationAxial hypotoniaHyperintensity of cerebral white matter on MRIMicrocephalyVomitingIncreased circulating lactate concentrationDiffuse cerebral atrophyPseudobulbar paralysisAbsent smooth pursuitFocal-onset seizure
Classification & Codes
Orphanet Code
ORPHA:438114hypomyelinating leukodystrophy 9
| Orphanet | ORPHA:438114 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO