Rare diseases · Sign or symptom
Decreased beta-galactosidase activity
HP:0008166
What it means
Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma.
Rare diseases that can present with this2
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Beta-galactosidase deficiency in fibroblasts and white blood cells · Beta-galactosidase-1 deficiency · Decreased beta galactosidase activity
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.