4H leukodystrophy
ORPHA: 289494
Overview
rare 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 4H leukodystrophy, sourced from HPO and Orphanet clinical annotations.
Hypogonadotropic hypogonadismAbnormality of the dentitionMyopiaHypodontiaAtaxiaDysarthriaDystoniaCerebral hypomyelinationAbnormality of eye movementDelayed pubertyTremorDysphagiaAbnormality of extrapyramidal motor functionDroolingUpper motor neuron dysfunctionShort statureProgressive gait ataxiaHyperintensity of cerebral white matter on MRIAbnormal saccadic eye movementsGaze-evoked nystagmusDelayed eruption of teethDecreased response to growth hormone stimulation testSeizureMental deteriorationCerebellar atrophyDysmetriaDysdiadochokinesisHypoplasia of the corpus callosumAbnormality of thyroid physiologyCataractOptic atrophyStriatal T2 hyperintensity
Classification & Codes
Orphanet Code
ORPHA:2894944H leukodystrophy
| Orphanet | ORPHA:289494 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO