sialidosis type 2

ORPHA: 87876

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 sialidosis type 2, sourced from HPO and Orphanet clinical annotations.

Inguinal herniaNephropathyCoarse facial featuresHearing impairmentDelayed speech and language developmentPectus carinatumOsteoporosisDysostosis multiplexAbnormal macular morphologySeizureAtaxiaGlobal developmental delayGeneralized hypotoniaMuscle weaknessTremorFlexion contractureUmbilical herniaAscitesDysphoniaSplenomegalyHydrops fetalisDyspneaHepatomegalyKyphosisSkeletal muscle atrophyShort statureAbnormal bone marrow cell morphologyCorneal opacityShort thoraxPedal edemaAbnormality of movement

Classification & Codes

Orphanet Code

ORPHA:87876
sialidosis type 2
OrphanetORPHA:87876
Treatments0 drug(s)
Symptoms on record31 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO