juvenile sialidosis type 2
ORPHA: 93399
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 juvenile sialidosis type 2, sourced from HPO and Orphanet clinical annotations.
Coarse facial featuresDysostosis multiplexGlobal developmental delayVisceromegalyHearing impairmentCataractSeizureFloppy infantCherry red spot of the maculaInguinal herniaAbnormality of the kidneyGingival overgrowthLow-set earsStrabismusVisual lossNystagmusOptic atrophyAtaxiaSpasticityMotor delayDysmetriaMyoclonusHepatosplenomegalyUmbilical herniaDysphoniaAbnormal heart morphologyDysphagiaLower limb spasticityAbnormality of the respiratory systemGeneralized myoclonic seizureHepatomegalyLoss of ambulationAbnormal form of the vertebral bodiesGeneralized hypertrichosisCorneal opacityUnderdeveloped supraorbital ridgesProtruding tongueSevere intellectual disability
Classification & Codes
Orphanet Code
ORPHA:93399juvenile sialidosis type 2
| Orphanet | ORPHA:93399 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO