Harel-Yoon syndrome
ORPHA: 496790
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 Harel-Yoon syndrome, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityGlobal developmental delayAxial hypotoniaSpasticitySpastic gaitIncreased circulating lactate concentrationPoor speechPeripheral axonal neuropathyLower limb amyotrophyCryptorchidismLong faceMandibular prognathiaMicrognathiaHigh foreheadDeeply set eyeCataractMyopiaEsotropiaUpslanted palpebral fissureOptic nerve hypoplasiaNystagmusOptic atrophyPectus carinatumDelayed pubertyCerebellar atrophyHip dysplasiaHypertrophic cardiomyopathyGait ataxiaSleep disturbanceScoliosisShort nose3-Methylglutaconic aciduriaPositional foot deformityFeeding difficultiesSeizureCorneal opacity
Classification & Codes
Orphanet Code
ORPHA:496790Harel-Yoon syndrome
| Orphanet | ORPHA:496790 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO