tremor-ataxia-central hypomyelination syndrome
ORPHA: 447896
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 tremor-ataxia-central hypomyelination syndrome, sourced from HPO and Orphanet clinical annotations.
Hypogonadotropic hypogonadismVertical supranuclear gaze palsyMyopiaAbnormality of ocular smooth pursuitNystagmusHypodontiaOligodontiaDelayed eruption of teethDelayed pubertyAtaxiaMild intellectual disabilitySpasticityGlobal developmental delayDysmetriaCerebellar hypoplasiaDystoniaHyperreflexiaDysphagiaHypoplasia of the corpus callosumIntention tremorAbnormal basal ganglia morphologyPostural tremorClumsinessDevelopmental regressionPositive Romberg signLeukodystrophySpastic dysarthriaUpper motor neuron dysfunctionCNS hypomyelinationBabinski signShort statureAutonomic bladder dysfunctionHigh myoinositol in brain by MRSOptic atrophyCerebral cortical atrophyImpaired vibration sensation in the lower limbsDroolingImpaired distal proprioceptionPeripheral neuropathyDeeply set eyeFocal-onset seizure
Classification & Codes
Orphanet Code
ORPHA:447896tremor-ataxia-central hypomyelination syndrome
| Orphanet | ORPHA:447896 |
| Treatments | 0 drug(s) |
| Symptoms on record | 41 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO