alpha-mannosidosis, adult form

ORPHA: 309288

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 alpha-mannosidosis, adult form, sourced from HPO and Orphanet clinical annotations.

Mild intellectual disabilityOligosacchariduriaAtaxiaRecurrent infectionsAstheniaMacroglossiaMixed hearing impairmentCataractMyopiaAtypical behaviorDepressionHallucinationsAnxietyDelusionDelayed speech and language developmentOsteopeniaCerebellar atrophyConfusionHepatosplenomegalyPneumoniaCerebral cortical atrophyClumsinessDrowsinessImmunodeficiencySubcortical cerebral atrophyRecurrent gastroenteritisOptic disc pallorAortic regurgitationPancytopeniaCorneal opacity

Classification & Codes

Orphanet Code

ORPHA:309288
alpha-mannosidosis, adult form
OrphanetORPHA:309288
Treatments0 drug(s)
Symptoms on record30 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO